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Eva-Cristiana Gavril
Department of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, University Street, No 16, 700115 Iasi, Romania

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Case report
Published: 30 August 2021 in Children
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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.

ACS Style

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 Style

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 (9):751.

Chicago/Turabian Style

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. 2021. "Wolf-Hirschhorn Syndrome: Clinical and Genetic Study of 7 New Cases, and Mini Review." Children 8, no. 9: 751.

Journal article
Published: 15 December 2020 in Genes
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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.

ACS Style

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 Style

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 (12):1506.

Chicago/Turabian Style

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. 2020. "Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review." Genes 11, no. 12: 1506.