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Wolf–Hirschhorn syndrome (WHS), a rare disorder determined by distal 4p deletion, is characterized by a pre and postnatal growth retardation, hypotonia, intellectual disability, epilepsy, craniofacial dysmorphism, and congenital fusion anomalies. The clinical aspects are dependent on the deletion’ size. Our aim was to identify rare specific characteristics in a cohort of seven cases with 4p deletion and to assess the utility of Multiplex ligation-dependent probe amplification (MLPA) (cheap and sensitive test)—combined kits—as a diagnostic test and selection tool for cases that require other investigations (chromosomal microarray analysis—CMA, karyotype). For all cases we conducted a clinical examination with the main features identified: facial dysmorphism, intellectual disability, postnatal development delay, cardiac defects and hypotonia. In some cases, we observed seizures, structural brain abnormalities, immunodeficiencies, and renal anomalies. Prenatal growth retardation was detected in a relatively small number of cases, but postnatal growth failure was a constant feature. In all cases, the clinical diagnosis was confirmed by genetic analyses: karyotype and/or MLPA. In conclusion, renal and brain defects, as well as immunodeficiency are rare manifestations and should be looked for. Although CMA is the standard test, in our experience, MLPA is also a reliable screening method as the identified cases were either confirmed by MLPA or selected for further investigations.
Eva-Cristiana Gavril; Alina Costina Luca; Alexandrina-Stefania Curpan; Roxana Popescu; Irina Resmerita; Monica Cristina Panzaru; Lacramioara Ionela Butnariu; Eusebiu Vlad Gorduza; Mihaela Gramescu; Cristina Rusu. Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review. Children 2021, 8, 751 .
AMA StyleEva-Cristiana Gavril, Alina Costina Luca, Alexandrina-Stefania Curpan, Roxana Popescu, Irina Resmerita, Monica Cristina Panzaru, Lacramioara Ionela Butnariu, Eusebiu Vlad Gorduza, Mihaela Gramescu, Cristina Rusu. Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review. Children. 2021; 8 (9):751.
Chicago/Turabian StyleEva-Cristiana Gavril; Alina Costina Luca; Alexandrina-Stefania Curpan; Roxana Popescu; Irina Resmerita; Monica Cristina Panzaru; Lacramioara Ionela Butnariu; Eusebiu Vlad Gorduza; Mihaela Gramescu; Cristina Rusu. 2021. "Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review." Children 8, no. 9: 751.
Gardner syndrome is a neoplasic disease that associates intestinal polyposis and colorectal adenocarcinoma with osteomas and soft tissue tumors determined by germline mutations in the APC gene. The early diagnosis and identification of high-risk individuals are important because patients have a 100% risk of colon cancer. We present the case of a family with Gardner syndrome. Cephalometric, panoramic X-rays and CBCT of the proband and her brother showed multiple osteomas affecting the skull bones, mandible and paranasal sinuses. The detailed family history showed an autosomal dominant transmission with the presence of the disease in the mother and maternal grandfather of the proband. Both had the typical signs of disease and died in the fourth decade of life. Based on these aspects the clinical diagnosis was Gardner syndrome. By gene sequencing, a novel pathogenic variant c.4609dup (p.Thr1537Asnfs*7) in heterozygous status was identified in the APC gene in both siblings. We reviewed literature data concerning the correlation between the localization of mutations in the APC gene and the extracolonic manifestations of familial adenomatous polyposis as well as their importance in early diagnosis and adequate oncological survey of patients and families based on abnormal genomic variants.
Cristina Antohi; Danisia Haba; Lavinia Caba; Mihai Liviu Ciofu; Vasile-Liviu Drug; Oana-Bogdana Bărboi; Bogdan Ionuț Dobrovăț; Monica-Cristina Pânzaru; Nicoleta Carmen Gorduza; Vasile Valeriu Lupu; Doina Dimofte; Cristina Gug; Eusebiu Vlad Gorduza. Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome. Diagnostics 2021, 11, 1560 .
AMA StyleCristina Antohi, Danisia Haba, Lavinia Caba, Mihai Liviu Ciofu, Vasile-Liviu Drug, Oana-Bogdana Bărboi, Bogdan Ionuț Dobrovăț, Monica-Cristina Pânzaru, Nicoleta Carmen Gorduza, Vasile Valeriu Lupu, Doina Dimofte, Cristina Gug, Eusebiu Vlad Gorduza. Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome. Diagnostics. 2021; 11 (9):1560.
Chicago/Turabian StyleCristina Antohi; Danisia Haba; Lavinia Caba; Mihai Liviu Ciofu; Vasile-Liviu Drug; Oana-Bogdana Bărboi; Bogdan Ionuț Dobrovăț; Monica-Cristina Pânzaru; Nicoleta Carmen Gorduza; Vasile Valeriu Lupu; Doina Dimofte; Cristina Gug; Eusebiu Vlad Gorduza. 2021. "Novel Mutation in APC Gene Associated with Multiple Osteomas in a Family and Review of Genotype-Phenotype Correlations of Extracolonic Manifestations in Gardner Syndrome." Diagnostics 11, no. 9: 1560.
Pallister–Killian syndrome (PKS) is a rare, sporadic disorder defined by a characteristic dysmorphic face, pigmentary skin anomalies, intellectual disability, hypotonia, and seizures caused by 12p tetrasomy due to an extra isochromosome 12p. We present three cases of PKS and two cases of trisomy 12p to illustrate and discuss features rarely cited in the literature, present certain particularities that not yet been cited, and analyze the differences between entities. Moreover, we present alternative methods of diagnosis that could be easily used in daily practice. Features not yet or rarely reported in PKS literature include marked excess of hair on the forehead and ears in the first months of life, a particular eye disorder (abnormal iris color with pointed pupil), connective tissue defects, repeated episodes of infection and autonomic dysfunction, endocrine malfunction as a possible cause of postnatal growth deficit, more complex sensory impairments, and mild early myoclonic jerks. After performing different combinations of tests, we conclude that MLPA (follow-up kit P230-B1) or array CGH using DNA extracted from a buccal swab is a reliable method of diagnosis in PKS and we recommend either one as a first intention diagnostic test. In cases without major defects associated (suspicion trisomy 12p), subtelomeric MLPA should be performed first.
Aurora Arghir; Roxana Popescu; Irina Resmerita; Magdalena Budisteanu; Lacramioara Butnariu; Eusebiu Gorduza; Mihaela Gramescu; Monica Panzaru; Sorina Papuc; Adriana Sireteanu; Andreea Tutulan-Cunita; Cristina Rusu. Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review. Genes 2021, 12, 811 .
AMA StyleAurora Arghir, Roxana Popescu, Irina Resmerita, Magdalena Budisteanu, Lacramioara Butnariu, Eusebiu Gorduza, Mihaela Gramescu, Monica Panzaru, Sorina Papuc, Adriana Sireteanu, Andreea Tutulan-Cunita, Cristina Rusu. Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review. Genes. 2021; 12 (6):811.
Chicago/Turabian StyleAurora Arghir; Roxana Popescu; Irina Resmerita; Magdalena Budisteanu; Lacramioara Butnariu; Eusebiu Gorduza; Mihaela Gramescu; Monica Panzaru; Sorina Papuc; Adriana Sireteanu; Andreea Tutulan-Cunita; Cristina Rusu. 2021. "Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review." Genes 12, no. 6: 811.
Background: We have investigated the main genetic causes for non-syndromic hearing impairment (NSHI) in the hearing impairment individuals from the North-Eastern Romania and proposed a cost-effective diagnosis protocol. Methods: MLPA followed by Sanger Sequencing were used for all 291 patients included in this study. Results: MLPA revealed abnormal results in 141 cases (48.45%): 57 (40.5%) were c.35delG homozygous, 26 (18.44%) were c.35delG heterozygous, 14 (9.93%) were compound heterozygous and 16 (11.35%) had other types of variants. The entire coding region of GJB2 was sequenced and out of 150 patients with normal results at MLPA, 29.33% had abnormal results: variants in heterozygous state: c.71G>A (28%), c.457G>A (20%), c.269T>C (12%), c.109G>A (12%), c.100A>T (12%), c.551G>C (8%). Out of 26 patients with c.35delG in heterozygous state, 38.46% were in fact compound heterozygous. Conclusions: We identified two variants: c.109G>A and c.100A>T that have not been reported in any study from Romania. MLPA is an inexpensive, rapid and reliable technique that could be a cost-effective diagnosis method, useful for patients with hearing impairment. It can be adaptable for the mutation spectrum in every population and followed by Sanger sequencing can provide a genetic diagnosis for patients with different degrees of hearing impairment.
Irina Resmerita; Romica Sebastian Cozma; Roxana Popescu; Luminita Mihaela Radulescu; Monica Cristina Panzaru; Lacramioara Ionela Butnariu; Lavinia Caba; Ovidiu-Dumitru Ilie; Eva-Cristiana Gavril; Eusebiu Vlad Gorduza; Cristina Rusu. Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review. Genes 2020, 11, 1506 .
AMA StyleIrina Resmerita, Romica Sebastian Cozma, Roxana Popescu, Luminita Mihaela Radulescu, Monica Cristina Panzaru, Lacramioara Ionela Butnariu, Lavinia Caba, Ovidiu-Dumitru Ilie, Eva-Cristiana Gavril, Eusebiu Vlad Gorduza, Cristina Rusu. Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review. Genes. 2020; 11 (12):1506.
Chicago/Turabian StyleIrina Resmerita; Romica Sebastian Cozma; Roxana Popescu; Luminita Mihaela Radulescu; Monica Cristina Panzaru; Lacramioara Ionela Butnariu; Lavinia Caba; Ovidiu-Dumitru Ilie; Eva-Cristiana Gavril; Eusebiu Vlad Gorduza; Cristina Rusu. 2020. "Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review." Genes 11, no. 12: 1506.