This page has only limited features, please log in for full access.
Joubert syndrome (OMIM #213300) is a rare neurodevelopmental disease characterized by abnormal breathing patterns, intellectual impairment, ocular findings, renal cysts, and hepatic fibrosis. It is classified as a ciliopathy disease, where cilia function or structure in various organs are affected. Here, we report a 17-year-old male whose main clinical findings are oculomotor apraxia and truncal ataxia. Magnetic resonance imaging revealed the characteristic molar tooth sign of Joubert syndrome. He also has obsessive–compulsive disorder concomitantly, which is not a known feature of Joubert syndrome. Molecular genetic analysis revealed a homozygous c.2106G>A (p.(Thr702=)) variation in the Abelson helper integration 1 (AHI1) gene and another homozygous c.1739C>T (p.Thr580Ile) variation in the coiled-coil and C2 domain-containing protein 1A (CC2D1A) gene. Even though certain AHI1 variations were previously associated with Joubert syndrome (JS), c.2106G>A (p.(Thr702=)) was only reported in one patient in trans with another known pathogenic JS variant. The CC2D1A c.1739C>T (p.Thr580Ile) variation, on the other hand, has been reported to cause autosomal recessive nonsyndromic mental retardation, but there are conflicting interpretations about its pathogenicity. Overall, to our knowledge, this is the first patient representing a severe ciliopathy phenotype caused by a homozygous synonymous AHI1 variation. Further investigations should be performed to determine any involvement of the CC2D1A gene in ciliopathy phenotypes such as Joubert syndrome.
Gulten Tuncel; Bahar Kaymakamzade; Yeliz Engindereli; Sehime Temel; Mahmut Ergoren. A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype. Genes 2021, 12, 945 .
AMA StyleGulten Tuncel, Bahar Kaymakamzade, Yeliz Engindereli, Sehime Temel, Mahmut Ergoren. A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype. Genes. 2021; 12 (6):945.
Chicago/Turabian StyleGulten Tuncel; Bahar Kaymakamzade; Yeliz Engindereli; Sehime Temel; Mahmut Ergoren. 2021. "A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype." Genes 12, no. 6: 945.
Background During 19th century, the Circassians were secluded from their lands and forced to migrate to Ottoman Empire properties. Approximately 2,346 Circassians were exiled from Istanbul to Cyprus Island. During the deportation journey, many of Circassian passed away in consequence of malaria and unknown reasons. Overall, 1,351 survivor Circassians managed to reach the island, however, many of them had faced with endemic malaria again in Cyprus. An autosomal recessive hematological disorder thalassemia was the second endemic health condition after malaria, whereas thalassemia carriers show resistance to malaria infections. Materials and Methods A large Cypriot family with 57 members whose grandparents were supposed to be in that ship journey has been investigated in this study. Polymerase chain reaction (PCR)–amplification refractory mutation system (ARMS) analysis technique was used for genotyping the HHB gene. Results The human β-globin (HBB) gene c.316–106C > G (IVS-II-745) (II-745) heterozygous variation have been detected. Conclusion Overall, this study is a very good example for a typical natural selection. In this case, one single gene point mutation did not limit survival in the society; natively, it increased their survival changes to form new colonization and the inheritance of the mutation to the next generations.
Mahmut C. Ergoren; Sehime G. Temel; Gamze Mocan; Munis Dundar. The Story of a Ship Journey, Malaria, and the HBB Gene IVS-II-745 Mutation: Circassian Immigration to Cyprus. Global Medical Genetics 2021, 08, 069 -071.
AMA StyleMahmut C. Ergoren, Sehime G. Temel, Gamze Mocan, Munis Dundar. The Story of a Ship Journey, Malaria, and the HBB Gene IVS-II-745 Mutation: Circassian Immigration to Cyprus. Global Medical Genetics. 2021; 08 (02):069-071.
Chicago/Turabian StyleMahmut C. Ergoren; Sehime G. Temel; Gamze Mocan; Munis Dundar. 2021. "The Story of a Ship Journey, Malaria, and the HBB Gene IVS-II-745 Mutation: Circassian Immigration to Cyprus." Global Medical Genetics 08, no. 02: 069-071.
Purpose Turner syndrome is a sex chromosomal aberration where majority of the patients have 45,X karyotype, while several patients are mosaic involving 45,X/46,XX; 46,X,i(Xq); and other variants. Cytogenetic analysis, karyotyping, is considered to be the “gold standard” to detect numerical and structural chromosomal abnormalities. In the recent years, alternative approaches, such as array comparative genomic hybridization (aCGH), have been widely used in genetic analysis to detect numerical abnormalities as well as unbalanced structural rearrangements. In this study, we report the use of karyotyping as well as aCGH in detecting a possible Turner syndrome variant. Methods An apparent 16-year-old female was clinically diagnosed as Turner syndrome with premature ovarian failure and short stature. The genetic diagnosis was performed for the patient and the parents by karyotyping analysis. aCGH was also performed for the patient. Main Findings Cytogenetic analysis of the patient was performed showing variant Turner syndrome (46,X,i(X)(q10)[26]/46,X,del(X)(q11.2)[11]/45,X[8]/46,XX[5]). The patient's aCGH result revealed that she has a deletion of 57,252kb of Xp22.33-p11.21 region; arr[GRCh37] Xp22.33-p11.21 (310,932–57,563–078)X1. Both aCGH and fluorescence in situ hybridization (FISH) results suggested that short stature Homeobox-containing (SHOX) gene, which is located on Xp22.33, was deleted, though FISH result indicated that this was in a mosaic pattern. Conclusion In the recent years, aCGH has become the preferred method in detecting numerical abnormalities and unbalanced chromosomal rearrangements. However, its use is hindered by its failure of detecting mosaicism, especially low-level partial mosaicism. Therefore, although the resolution of the aCGH is higher, the cytogenetic investigation is still the first in line to detect mosaicism.
Pinar Tulay; Mahmut Cerkez Ergoren; Ahmet Alkaya; Eyup Yayci; Sebnem Ozemri Sag; Sehime Gulsum Temel. Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case. Global Medical Genetics 2020, 07, 128 -132.
AMA StylePinar Tulay, Mahmut Cerkez Ergoren, Ahmet Alkaya, Eyup Yayci, Sebnem Ozemri Sag, Sehime Gulsum Temel. Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case. Global Medical Genetics. 2020; 07 (04):128-132.
Chicago/Turabian StylePinar Tulay; Mahmut Cerkez Ergoren; Ahmet Alkaya; Eyup Yayci; Sebnem Ozemri Sag; Sehime Gulsum Temel. 2020. "Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case." Global Medical Genetics 07, no. 04: 128-132.
Background: The use of psychoactive substances is one of the most dangerous social problems worldwide. Nicotine dependence results from the interaction between neurobiological, environmental and genetic factors. Serotonin is a neurotransmitter that has a wide range of central nervous system activities. The serotonin transporter gene has been previously linked to psychological traits. Objective: A variable number of tandem repeats within the serotonin transporter-linked polymorphic gene region are believed to alter the transcriptional efficiency of the 5-HTT gene. Therefore, we aimed to investigate the association between this polymorphic site and smoking behavior in the Turkish Cypriot population. Methods: A total of 259 (100 smokers, 100 non-smokers and 59 ex-smokers) Turkish Cypriots were included in this population-based cross-sectional study. Genomic DNA was extracted from peripheral blood samples and the 5-HTTVNTR2 polymorphisms were determined by the PCR-RFLP. Results: The allelic frequency and genotype distribution results of this study showed a strong association (P Conclusion: This is the first genetic epidemiology study to investigate the allelic frequencies of 5-HTTVNTR2 polymorphisms associated with smoking behavior in the Turkish Cypriot population. Based on the results of this study, genome-wide association studies should be designed for preventive medicine in this population.
Emine Kandemis; Gulten Tuncel; Ozen Asut; Sehime G. Temel; Mahmut C. Ergoren. Strong Association between Serotonin Transporter 5-HTTVNTR Variant and Psychoactive Substance (Nicotine) Use in the Turkish Cypriot Population. Current Drug Metabolism 2020, 21, 466 -470.
AMA StyleEmine Kandemis, Gulten Tuncel, Ozen Asut, Sehime G. Temel, Mahmut C. Ergoren. Strong Association between Serotonin Transporter 5-HTTVNTR Variant and Psychoactive Substance (Nicotine) Use in the Turkish Cypriot Population. Current Drug Metabolism. 2020; 21 (6):466-470.
Chicago/Turabian StyleEmine Kandemis; Gulten Tuncel; Ozen Asut; Sehime G. Temel; Mahmut C. Ergoren. 2020. "Strong Association between Serotonin Transporter 5-HTTVNTR Variant and Psychoactive Substance (Nicotine) Use in the Turkish Cypriot Population." Current Drug Metabolism 21, no. 6: 466-470.
Pathogenic variants in the coding regions of the BRCA1/2 lead dysfunctional or nonfunctional BRCA proteins however the contribution of non-coding BRCA1/2 variants to BRCA-related disease risk has not been fully elucidated. Thus, we characterized the functional impact of both coding and non-coding BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers. The data were produced by resequencing the exons and exon-intron junctions of the BRCA1/2 in 125 individuals and were comprehensively analyzed by using bioinformatics tools and databases. A total of 96 variants (59 coding and 37 non-coding) including 7 novel variants were identified and analyzed for their functional importance. We identified 11 missense variants that potentially affect protein function; 22 variants were likely to alter different types of posttranslational modifications. Also, multiple non-coding BRCA1/2 variants were found to reside in the critical regulatory regions that have the potential to act as eQTLs and affect alternative splicing. The results of our study shed light on the possible contributions of not only coding variants but also non-coding BRCA1/2 variants in BRCRA-related cancers. Further investigation is required to fully understand their potential associations with phenotypes which may ultimately lead their utilization on cancer management as a biomarker.
Dilek Pirim; Niyazi Kaya; Elif Uz Yıldırım; Sebnem Ozemri Sag; Sehime Gulsun Temel. Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers. International Journal of Biological Macromolecules 2020, 162, 1166 -1177.
AMA StyleDilek Pirim, Niyazi Kaya, Elif Uz Yıldırım, Sebnem Ozemri Sag, Sehime Gulsun Temel. Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers. International Journal of Biological Macromolecules. 2020; 162 ():1166-1177.
Chicago/Turabian StyleDilek Pirim; Niyazi Kaya; Elif Uz Yıldırım; Sebnem Ozemri Sag; Sehime Gulsun Temel. 2020. "Characterization and in silico analyses of the BRCA1/2 variants identified in individuals with personal and/or family history of BRCA-related cancers." International Journal of Biological Macromolecules 162, no. : 1166-1177.
Neonatal progeroid syndrome or Wiedemann–Rautenstrauch syndrome (WRS; MIM 264090) is a rare genetic disorder that has clinical symptoms including premature aging, lipodystrophy, and variable mental impairment. Until recently genetic background of the disease was unclear. However, recent studies have indicated that WRS patients have compound heterozygote variations in the POLR3A (RNA polymerase III subunit 3A; MIM 614258) gene that might be responsible for the disease phenotype. In this study we report a WRS patient that has compound heterozygote variations in the POLR3A gene. One of the reported variations in our patient, c.3568C>T, p.(Gln1190Ter), is a novel variation that was not reported before. The other variant, c.3337-11T>C, was previously shown in WRS patients in trans with other variations.
Sehime Gulsun Temel; Mahmut Cerkez Ergoren; Elena Manara; Stefano Paolacci; Gulten Tuncel; Seref Gul; Matteo Bertelli. Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome. European Journal of Human Genetics 2020, 28, 1675 -1680.
AMA StyleSehime Gulsun Temel, Mahmut Cerkez Ergoren, Elena Manara, Stefano Paolacci, Gulten Tuncel, Seref Gul, Matteo Bertelli. Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome. European Journal of Human Genetics. 2020; 28 (12):1675-1680.
Chicago/Turabian StyleSehime Gulsun Temel; Mahmut Cerkez Ergoren; Elena Manara; Stefano Paolacci; Gulten Tuncel; Seref Gul; Matteo Bertelli. 2020. "Unique combination and in silico modeling of biallelic POLR3A variants as a cause of Wiedemann–Rautenstrauch syndrome." European Journal of Human Genetics 28, no. 12: 1675-1680.
Male infertility affects ∼7% of men in Western societies, but its causes remain poorly understood. The most clinically severe form of male infertility is non-obstructive azoospermia (NOA), which is, in part, caused by an arrest at meiosis, but so far only few genes have been reported to cause germ cell arrest in males. To address this gap, whole exome sequencing was performed in 60 German men with complete meiotic arrest, and we identified in three unrelated men the same homozygous frameshift variant c.676dup (p.Trp226LeufsTer4) in M1AP, encoding meiosis 1 arresting protein. Then, with collaborators from the International Male Infertility Genomics Consortium (IMIGC), we screened a Dutch cohort comprising 99 infertile men and detected the same homozygous variant c.676dup in a man with hypospermatogenesis predominantly displaying meiotic arrest. We also identified two Portuguese men with NOA carrying likely biallelic loss-of-function (LoF) and missense variants in M1AP among men screened by the Genetics of Male Infertility Initiative (GEMINI). Moreover, we discovered a homozygous missense variant p.(Pro389Leu) in M1AP in a consanguineous Turkish family comprising five infertile men. M1AP is predominantly expressed in human and mouse spermatogonia up to secondary spermatocytes and previous studies have shown that knockout male mice are infertile due to meiotic arrest. Collectively, these findings demonstrate that both LoF and missense M1AP variants that impair its protein cause autosomal-recessive meiotic arrest, non-obstructive azoospermia and male infertility. In view of the evidence from several independent groups and populations, M1AP should be included in the growing list of validated NOA genes.
Margot J. Wyrwoll; Şehime G. Temel; Liina Nagirnaja; Manon S. Oud; Alexandra M. Lopes; Godfried W. Van Der Heijden; Nadja Rotte; Joachim Wistuba; Marius Wöste; Susanne Ledig; Henrike Krenz; Roos M. Smits; Filipa Carvalho; João Gonçalves; Daniela Fietz; Burcu Türkgenç; Mahmut C. Ergören; Murat Çetinkaya; Murad Başar; Semra Kahraman; Adrian Pilatz; Albrecht Röpke; Martin Dugas; Sabine Kliesch; Nina Neuhaus; Kenneth I. Aston; Donald F. Conrad; Joris A. Veltman; Corinna Friedrich; Frank Tüttelmann; GEMINI Consortium. Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility. 2019, 803346 .
AMA StyleMargot J. Wyrwoll, Şehime G. Temel, Liina Nagirnaja, Manon S. Oud, Alexandra M. Lopes, Godfried W. Van Der Heijden, Nadja Rotte, Joachim Wistuba, Marius Wöste, Susanne Ledig, Henrike Krenz, Roos M. Smits, Filipa Carvalho, João Gonçalves, Daniela Fietz, Burcu Türkgenç, Mahmut C. Ergören, Murat Çetinkaya, Murad Başar, Semra Kahraman, Adrian Pilatz, Albrecht Röpke, Martin Dugas, Sabine Kliesch, Nina Neuhaus, Kenneth I. Aston, Donald F. Conrad, Joris A. Veltman, Corinna Friedrich, Frank Tüttelmann, GEMINI Consortium. Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility. . 2019; ():803346.
Chicago/Turabian StyleMargot J. Wyrwoll; Şehime G. Temel; Liina Nagirnaja; Manon S. Oud; Alexandra M. Lopes; Godfried W. Van Der Heijden; Nadja Rotte; Joachim Wistuba; Marius Wöste; Susanne Ledig; Henrike Krenz; Roos M. Smits; Filipa Carvalho; João Gonçalves; Daniela Fietz; Burcu Türkgenç; Mahmut C. Ergören; Murat Çetinkaya; Murad Başar; Semra Kahraman; Adrian Pilatz; Albrecht Röpke; Martin Dugas; Sabine Kliesch; Nina Neuhaus; Kenneth I. Aston; Donald F. Conrad; Joris A. Veltman; Corinna Friedrich; Frank Tüttelmann; GEMINI Consortium. 2019. "Biallelic mutations in M1AP are a frequent cause of meiotic arrest leading to male infertility." , no. : 803346.
Peeling skin syndrome is a heterogeneous group of rare disorders. Peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (PLACK syndrome, OMIM616295) is a newly described form of PSS with an autosomal recessive mode of inheritance. We report a 5.5-year-old boy with features of PLACK syndrome. Additionally, he had mild cerebral atrophy and mild muscle involvements. Whole exome sequencing was performed in genomic DNA of this individual and subsequent analysis revealed a homozygous c.544G > T (p.Glu182*) nonsense mutation in the CAST gene encoding calpastatin. Sanger sequencing confirmed this variant and demonstrated that his affected aunt was also homozygous. Real-time qRT-PCR and immunoblot analysis showed reduced calpastatin expression in skin fibroblasts derived from both affected individuals compared to heterozygous family members. In vitro calpastatin activity assays also showed decreased activity in affected individuals. This study further supports a key role for calpastatin in the tight regulation of proteolytic pathways within the skin.
Şehime Gülsün Temel; B. Karakaş; Ü. Şeker; Burcu Turkgenc; Ö. Zorlu; H. Sarıcaoğlu; Ç. Oğur; Ö. Kütük; D. P. Kelsell; M. C. Yakıcıer. A novel homozygous nonsense mutation in CAST associated with PLACK syndrome. Cell and Tissue Research 2019, 378, 267 -277.
AMA StyleŞehime Gülsün Temel, B. Karakaş, Ü. Şeker, Burcu Turkgenc, Ö. Zorlu, H. Sarıcaoğlu, Ç. Oğur, Ö. Kütük, D. P. Kelsell, M. C. Yakıcıer. A novel homozygous nonsense mutation in CAST associated with PLACK syndrome. Cell and Tissue Research. 2019; 378 (2):267-277.
Chicago/Turabian StyleŞehime Gülsün Temel; B. Karakaş; Ü. Şeker; Burcu Turkgenc; Ö. Zorlu; H. Sarıcaoğlu; Ç. Oğur; Ö. Kütük; D. P. Kelsell; M. C. Yakıcıer. 2019. "A novel homozygous nonsense mutation in CAST associated with PLACK syndrome." Cell and Tissue Research 378, no. 2: 267-277.
Vitamin D is an important molecule to keep teeth, bones and muscles healthy. It is obtained from diet, supplements and primarily from exposure to sunlight. In recent years, vitamin D deficiency is recognised as a worldwide health problem, which results in disturbances in mineral metabolism and skeletal problems. Deficiency might be caused due to sedentary lifestyle, insufficient diet, age as well as some polymorphisms in the VDR gene. In this study the four most common VDR polymorphisms (rs1544410 (BsmI), rs731236 (TaqI), rs7975232 (ApaI) and rs2228570 (FokI)) are investigated in a cohort of Turkish Cypriots and aimed to detect any possible links between low serum vitamin D levels and these variants. The rs2228570 (FokI) variant but not others were shown to have a significant association with decreased serum vitamin D levels in the Turkish Cypriot population.
Gulten Tuncel; Sehime Gulsun Temel; Mahmut Cerkez Ergoren. Strong association between VDR FokI (rs2228570) gene variant and serum vitamin D levels in Turkish Cypriots. Molecular Biology Reports 2019, 46, 3349 -3355.
AMA StyleGulten Tuncel, Sehime Gulsun Temel, Mahmut Cerkez Ergoren. Strong association between VDR FokI (rs2228570) gene variant and serum vitamin D levels in Turkish Cypriots. Molecular Biology Reports. 2019; 46 (3):3349-3355.
Chicago/Turabian StyleGulten Tuncel; Sehime Gulsun Temel; Mahmut Cerkez Ergoren. 2019. "Strong association between VDR FokI (rs2228570) gene variant and serum vitamin D levels in Turkish Cypriots." Molecular Biology Reports 46, no. 3: 3349-3355.
We present three siblings afflicted with a disease characterized by cerebellar ataxia, cerebellar atrophy, pyramidal tract damage with increased lower limb tendon reflexes and onset of 31 to 57 years, which is not typical for a known disease. In a region of shared homozygosity in patients, exome sequencing revealed novel homozygous c.*240T > C variant in the 3′UTR of STUB1, the gene responsible for autosomal recessive spinocerebellar ataxia 16 (SCAR16). In other genes, such an alteration of the evolutionarily highly conserved polyadenylation signal from AATAAA to AACAAA is known to highly impair polyadenylation. In contrast, RNA sequencing and quantification revealed that neither polyadenylation nor stability of STUB1 mRNA is affected. In silico analysis predicted that the secondary structure of the mRNA is altered. We propose that this change underlies the extremely low amounts of the encoded protein in patient leukocytes. This article is protected by copyright. All rights reserved
Burcu Turkgenc; Burcin Sanlidag; Amber Eker; Aslı Giray; Ozgur Kutuk; Cengiz Yakicier; Aslıhan Tolun; Sehime G Temel; Asli Giray. STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16. Human Mutation 2018, 39, 1344 -1348.
AMA StyleBurcu Turkgenc, Burcin Sanlidag, Amber Eker, Aslı Giray, Ozgur Kutuk, Cengiz Yakicier, Aslıhan Tolun, Sehime G Temel, Asli Giray. STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16. Human Mutation. 2018; 39 (10):1344-1348.
Chicago/Turabian StyleBurcu Turkgenc; Burcin Sanlidag; Amber Eker; Aslı Giray; Ozgur Kutuk; Cengiz Yakicier; Aslıhan Tolun; Sehime G Temel; Asli Giray. 2018. "STUB1 polyadenylation signal variant AACAAA does not affect polyadenylation but decreases STUB1 translation causing SCAR16." Human Mutation 39, no. 10: 1344-1348.
Sehime Gulsun Temel; Burcu Turkgenc; Arzu Akcay; Aylin Koseler; Cengiz Yakicier. Postmortem genetic testing in sudden cardiac death: To be or not to be? Journal of Biotechnology 2018, 280, S19 .
AMA StyleSehime Gulsun Temel, Burcu Turkgenc, Arzu Akcay, Aylin Koseler, Cengiz Yakicier. Postmortem genetic testing in sudden cardiac death: To be or not to be? Journal of Biotechnology. 2018; 280 ():S19.
Chicago/Turabian StyleSehime Gulsun Temel; Burcu Turkgenc; Arzu Akcay; Aylin Koseler; Cengiz Yakicier. 2018. "Postmortem genetic testing in sudden cardiac death: To be or not to be?" Journal of Biotechnology 280, no. : S19.
Marfan syndrome (MFS) is a multi-systemic autosomal dominant condition caused by mutations in the gene (FBN1) coding for fibrillin-1. Mutations have been associated with a wide range of overlapping phenotypes. Here, we report on an extended family presenting with skeletal, ocular and cardiovascular clinical features. The 37-year-old male propositus, who had chest pain, dyspnea and shortness of breath, was first diagnosed based on the revised Ghent criteria and then subjected to molecular genetic analyses. FBN1 sequencing of the proband as well as available affected family members revealed the presence of a novel variant, c.7828G>C (p.Glu2610Gln), which was not present in any of the unaffected family members. In silico analyses demonstrated that the Glu2610 residue is part of the conserved DINE motif found at the beginning of each cbEGF domain of FBN1. The substitution of Glu2610 with Gln decreased fibrillin-1 production accordingly. Despite the fact that this variation appears to be primarily responsible for the etiology of MFS in the present family, our findings suggest that variable clinical expressions of the disease phenotype should be considered critically by the physicians.
Mahmut Cerkez Ergoren; Burcu Turkgenc; Kerem Teralı; Orhan Rodoplu; Aline Verstraeten; Lut Van Laer; Gamze Mocan; Bart Loeys; Omer Tetik; Sehime G. Temel. Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome. Connective Tissue Research 2018, 60, 146 -154.
AMA StyleMahmut Cerkez Ergoren, Burcu Turkgenc, Kerem Teralı, Orhan Rodoplu, Aline Verstraeten, Lut Van Laer, Gamze Mocan, Bart Loeys, Omer Tetik, Sehime G. Temel. Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome. Connective Tissue Research. 2018; 60 (2):146-154.
Chicago/Turabian StyleMahmut Cerkez Ergoren; Burcu Turkgenc; Kerem Teralı; Orhan Rodoplu; Aline Verstraeten; Lut Van Laer; Gamze Mocan; Bart Loeys; Omer Tetik; Sehime G. Temel. 2018. "Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome." Connective Tissue Research 60, no. 2: 146-154.
The presence of rs4977574 G and rs1333040 T alleles and interaction may exist as environmental factors associated with lipid metabolism and might be responsible for the development of CAD in a Turkish Cypriot population.
Şehime Gülsün Temel. The association between the chromosome 9p21 CDKN2B-AS1 gene variants and the lipid metabolism: pre-diagnostic biomarker for coronary artery disease. The Anatolian Journal of Cardiology 2018, 21, 31 -38.
AMA StyleŞehime Gülsün Temel. The association between the chromosome 9p21 CDKN2B-AS1 gene variants and the lipid metabolism: pre-diagnostic biomarker for coronary artery disease. The Anatolian Journal of Cardiology. 2018; 21 (1):31-38.
Chicago/Turabian StyleŞehime Gülsün Temel. 2018. "The association between the chromosome 9p21 CDKN2B-AS1 gene variants and the lipid metabolism: pre-diagnostic biomarker for coronary artery disease." The Anatolian Journal of Cardiology 21, no. 1: 31-38.
Mutations in the gene for fibroblast growth factor receptor 3 (FGFR3) are implicated in achondroplasia, an autosomal-dominant form of short-limbed dwarfism. The present study involves a combination of clinical exome sequencing, targeted resequencing and protein modeling methods to decipher the pathobiology of achondroplasia with psychomotor delay in a two-year-old child. Accordingly, the resulting genetic information establishes the frequent FGFR3 c.1138G > A (p.G380R) mutation as the single hit causing pediatric achondroplasia with psychomotor delay, while the predicted model stresses the importance of a phenylalanyl residue (F384) in enhancing the dimerization potential of the receptor’s transmembrane domain via a cation‒π interaction with the newly introduced arginyl residue. Overall, the likely involvement of FGFR3G380R in psychomotor delay calls for comprehensive clinical assessment in achondroplastic children, although the precise mechanism by which the mutant receptor results in the development of neurological manifestations awaits further investigation.
Kerem Teralı; Şehime Gülsün Temel; Erdal Eren. Identification of the FGFR3G380R Mutant As a Likely Cause of Psychomotor Delay in an Achondroplastic Child: A Combined Clinical Exome Sequencing and Biomolecular Modeling Approach. Proceedings 2018, 2, 1551 .
AMA StyleKerem Teralı, Şehime Gülsün Temel, Erdal Eren. Identification of the FGFR3G380R Mutant As a Likely Cause of Psychomotor Delay in an Achondroplastic Child: A Combined Clinical Exome Sequencing and Biomolecular Modeling Approach. Proceedings. 2018; 2 (25):1551.
Chicago/Turabian StyleKerem Teralı; Şehime Gülsün Temel; Erdal Eren. 2018. "Identification of the FGFR3G380R Mutant As a Likely Cause of Psychomotor Delay in an Achondroplastic Child: A Combined Clinical Exome Sequencing and Biomolecular Modeling Approach." Proceedings 2, no. 25: 1551.
Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be considered, particularly in malignant course patients. Three patients were admitted into hospital due to recurrent seizures/syncope, intrauterine and postnatal bradycardia respectively; moreover all three patients had congenital sensorineural hearing-loss. Their electrocardiograms showed markedly prolonged QT interval. Implantable defibrillator was implanted and left cardiac sympathetic denervation was performed due to the progressive disease in case 1. She had countless ventricular fibrillation and appropriate shock while using an implantable defibrillator. The DNA sequencing analysis of the KCNQ1 gene disclosed a homozygous c.728G > A (p.Arg243His) missense mutation in case1. Further targeted next generation sequencing of cardiac panel comprising 68 gene revealed a heterozygous c.1346 T > G (p.Ile449Arg) variant in RYR2 gene and a heterozygous c.809G > A (p.Cys270Tyr) variant in NKX2–5 gene in the same patient. Additional gene alterations in RYR2 and NKX2–5 genes were thought to be responsible for progressive and malignant course of the disease. As a result of DNA sequencing analysis of KCNQ1 and KCNE1 genes, a compound heterozygosity for two mutations had been detected in KCNQ1 gene in case 2: a maternally derived c.477 + 1G > A splice site mutation and a paternally derived c.520C > T (p.Arg174Cys) missense mutation. Sanger sequencing of KCNQ1 and KCNE1 genes displayed a homozygous c.1097G > A (p.Arg366Gln) mutation in KCNQ1 gene in case 3. β-blocker therapy was initiated to all the index subjects. Three families of JLNS who presented with long QT and deafness and who carry homozygous, or compound heterozygous mutation in KCNQ1 gene were presented in this report. It was emphasized that broad targeted cardiac panels may be useful to predict the outcome especially in patients with unexplained phenotype-genotype correlation. Clinical presentations and molecular findings will be discussed further to clarify the phenotype genotype associations.
Fahrettin Uysal; Burcu Turkgenc; Guven Toksoy; Ozlem M. Bostan; Elif Evke; Oya Uyguner; Cengiz Yakicier; Hulya Kayserili; Ergun Cil; Sehime G. Temel. “Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”. BMC Medical Genetics 2017, 18, 114 -114.
AMA StyleFahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M. Bostan, Elif Evke, Oya Uyguner, Cengiz Yakicier, Hulya Kayserili, Ergun Cil, Sehime G. Temel. “Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”. BMC Medical Genetics. 2017; 18 (1):114-114.
Chicago/Turabian StyleFahrettin Uysal; Burcu Turkgenc; Guven Toksoy; Ozlem M. Bostan; Elif Evke; Oya Uyguner; Cengiz Yakicier; Hulya Kayserili; Ergun Cil; Sehime G. Temel. 2017. "“Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports”." BMC Medical Genetics 18, no. 1: 114-114.
S.G. Temel; B. Türkgenç; O. Karadag; H.H. Aykan; F. Uysal; I.Y. Bastuhan; A. Sulu; S.U. Atik; B. Çinar; R. Dedeoglu; E. Günay; M. Ramoglu; E. Cilsal; M. Sahin; T. Mese; O. Çiftçi; F. Oztunc; T. Karagöz; O. Baspinar; O.M. Bostan; F. Akalin; M. Kervanoglu; C. Ayabakan; E. Cil; Y. Alanay; A. Celiker; S.A. Ozer; M.C. Yakicier. Targeted custom gene panel sequencing for cardiac ion channelopathies: Efficiently detects candidate pathogenic mutations in Long QT syndrome. Journal of Biotechnology 2017, 256, S28 -S29.
AMA StyleS.G. Temel, B. Türkgenç, O. Karadag, H.H. Aykan, F. Uysal, I.Y. Bastuhan, A. Sulu, S.U. Atik, B. Çinar, R. Dedeoglu, E. Günay, M. Ramoglu, E. Cilsal, M. Sahin, T. Mese, O. Çiftçi, F. Oztunc, T. Karagöz, O. Baspinar, O.M. Bostan, F. Akalin, M. Kervanoglu, C. Ayabakan, E. Cil, Y. Alanay, A. Celiker, S.A. Ozer, M.C. Yakicier. Targeted custom gene panel sequencing for cardiac ion channelopathies: Efficiently detects candidate pathogenic mutations in Long QT syndrome. Journal of Biotechnology. 2017; 256 ():S28-S29.
Chicago/Turabian StyleS.G. Temel; B. Türkgenç; O. Karadag; H.H. Aykan; F. Uysal; I.Y. Bastuhan; A. Sulu; S.U. Atik; B. Çinar; R. Dedeoglu; E. Günay; M. Ramoglu; E. Cilsal; M. Sahin; T. Mese; O. Çiftçi; F. Oztunc; T. Karagöz; O. Baspinar; O.M. Bostan; F. Akalin; M. Kervanoglu; C. Ayabakan; E. Cil; Y. Alanay; A. Celiker; S.A. Ozer; M.C. Yakicier. 2017. "Targeted custom gene panel sequencing for cardiac ion channelopathies: Efficiently detects candidate pathogenic mutations in Long QT syndrome." Journal of Biotechnology 256, no. : S28-S29.
Introduction: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is a rare disease characterized by low adrenocorticotropic hormone (ACTH) and cortisol levels. To date, recurrent pulmonary infections in infancy have not been reported as an accompanying symptom of CIAD. Case Presentation: A 7-year-old boy was hospitalized nine times for recurrent lower respiratory tract infections. The results of all tests for the possible causes of wheezing were within the normal limits. His ACTH and cortisol levels were persistently low. All other pituitary hormone levels, and adrenal ultrasound and pituitary magnetic resonance imaging results, were normal. Molecular analyses confirmed the diagnosis of CIAD by identifying compound heterozygosity for two mutations in the TBX19 gene. The first was a novel frameshift c.665delG variant in exon 4 of TBX19 gene, leading to premature termination that was predicted to result in a non-functional truncated protein. The second was a nonsense C-to-T transition in exon 6 of the TBX19 gene, resulting in an arg286-to-ter mutation (dbSNP: rs74315376). Both parents were heterozygous for one of the mutations. Conclusions: Here, we presented a new mutation in the TBX19 gene in a patient with CIAD who presented with recurrent respiratory tract infections. This expands the mutation spectrum in this disorder. To conclude, adrenal insufficiency should be considered in patients with unexplained recurrent infections to prevent a delay in diagnosis. Keywords: Adrenal insufficiency; adrenocorticotropic hormone; cortisol; respiratory infections; TBX19 gene
Nese Akcan; Nedime Serakıncı; Burcu Turkgenc; Ruveyde Bundak; Nerin Bahceciler; Sehime G. Temel. A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections. Frontiers in Endocrinology 2017, 8, 1 .
AMA StyleNese Akcan, Nedime Serakıncı, Burcu Turkgenc, Ruveyde Bundak, Nerin Bahceciler, Sehime G. Temel. A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections. Frontiers in Endocrinology. 2017; 8 ():1.
Chicago/Turabian StyleNese Akcan; Nedime Serakıncı; Burcu Turkgenc; Ruveyde Bundak; Nerin Bahceciler; Sehime G. Temel. 2017. "A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections." Frontiers in Endocrinology 8, no. : 1.
Long QT syndrome is one of the most common cardiac ion channel diseases, but its morbidity and mortality rate can be lessened with an early diagnosis and proper treatment. This cardiac ventricular repolarization abnormality is characterized by a prolonged QT interval and a propensity for ventricular tachycardia (VT) of the torsades de pointes type. The long QT syndrome represents a high risk for presyncope, syncope, cardiac arrest, and sudden death. Jervell and Lange–Nielsen syndrome (JLNS) is a recessively inherited form of long QT syndrome characterized by profound sensorineural deafness and prolongation of the QT interval. Findings have shown that JLNS occurs due to homozygous and compound heterozygous pathogenic variants in KCNQ1 or KCNE1. A 3.5-year-old girl presented to the hospital with recurrent syncope, seizures, and congenital sensorineural deafness. Her electrocardiogram showed a markedly prolonged QT interval, and she had a diagnosis of JLNS. The sequence analysis of the proband showed the presence of a pathogenic homozygous missense variant (c.728G>A, p.Arg243His). Heterozygous mutations of KCNQ1 were identified in her mother, father, and sister, demonstrating true homozygosity. Even with high-dose beta-blocker therapy, the patient had two VT attacks, so an implantable cardioverter defibrillator was fitted. The authors suggest early genetic diagnosis for proper management of the disease in the proband and genetic counseling for both the proband and the girl’s extended family.
Ozlem Bostan; Şehime G. Temel; Hakan Cangul; Caroline N. S. Archer; Ergun Cil. Jervell and Lange–Nielsen Syndrome: Homozygous Missense Mutation of KCNQ1 in a Turkish Family. Pediatric Cardiology 2013, 34, 2063 -2067.
AMA StyleOzlem Bostan, Şehime G. Temel, Hakan Cangul, Caroline N. S. Archer, Ergun Cil. Jervell and Lange–Nielsen Syndrome: Homozygous Missense Mutation of KCNQ1 in a Turkish Family. Pediatric Cardiology. 2013; 34 (8):2063-2067.
Chicago/Turabian StyleOzlem Bostan; Şehime G. Temel; Hakan Cangul; Caroline N. S. Archer; Ergun Cil. 2013. "Jervell and Lange–Nielsen Syndrome: Homozygous Missense Mutation of KCNQ1 in a Turkish Family." Pediatric Cardiology 34, no. 8: 2063-2067.
Ann Indian Acad Neurol, Official publication of Indian Academy of Neurology.
Sehime G Temel; Ozlem M. Bostan; Hakan Cangul; Ergun Cil. Turkish perspective of Jervell and Lange-Nielsen syndrome. Annals of Indian Academy of Neurology 2013, 16, 129 -30.
AMA StyleSehime G Temel, Ozlem M. Bostan, Hakan Cangul, Ergun Cil. Turkish perspective of Jervell and Lange-Nielsen syndrome. Annals of Indian Academy of Neurology. 2013; 16 (1):129-30.
Chicago/Turabian StyleSehime G Temel; Ozlem M. Bostan; Hakan Cangul; Ergun Cil. 2013. "Turkish perspective of Jervell and Lange-Nielsen syndrome." Annals of Indian Academy of Neurology 16, no. 1: 129-30.
Sehime G. Temel; Hakan Cangul. Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD. Journal of Pediatric Endocrinology and Metabolism 2013, 26, 191 .
AMA StyleSehime G. Temel, Hakan Cangul. Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD. Journal of Pediatric Endocrinology and Metabolism. 2013; 26 (1-2):191.
Chicago/Turabian StyleSehime G. Temel; Hakan Cangul. 2013. "Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD." Journal of Pediatric Endocrinology and Metabolism 26, no. 1-2: 191.