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المؤلفAlkhidir, Shaza
المؤلفEl-Akouri, Karen
المؤلفAl-Dewik, Nader
المؤلفKhodjet-El-khil, Houssein
المؤلفOkashah, Sarah
المؤلفIslam, Nazmul
المؤلفBen-Omran, Tawfeg
المؤلفAl-Shafai, Mashael
تاريخ الإتاحة2024-04-29T10:52:39Z
تاريخ النشر2024-02-20
اسم المنشورScientific Reports
المعرّفhttp://dx.doi.org/10.1038/s41598-024-52784-z
الاقتباسAlkhidir, S., El-Akouri, K., Al-Dewik, N., Khodjet-El-khil, H., Okashah, S., Islam, N., ... & Al-Shafai, M. (2024). The genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar. Scientific Reports, 14(1), 4202.
الرقم المعياري الدولي للكتاب2045-2322
معرّف المصادر الموحدhttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85185465742&origin=inward
معرّف المصادر الموحدhttp://hdl.handle.net/10576/54452
الملخصHearing loss is the most predominant sensory defect occurring in pediatrics, of which, 66% cases are attributed to genetic factors. The prevalence of hereditary hearing loss increases in consanguineous populations, and the prevalence of hearing loss in Qatar is 5.2%. We aimed to investigate the genetic basis of nonsyndromic hearing loss (NSHL) in Qatar and to evaluate the diagnostic yield of different genetic tests available. A retrospective chart review was conducted for 59 pediatric patients with NSHL referred to the Department of Adult and Pediatric Medical Genetics at Hamad Medical Corporation in Qatar, and who underwent at least one genetic test. Out of the 59 patients, 39 were solved cases due to 19 variants in 11 genes and two copy number variants that explained the NSHL phenotype. Of them 2 cases were initially uncertain and were reclassified using familial segregation. Around 36.8% of the single variants were in GJB2 gene and c.35delG was the most common recurrent variant seen in solved cases. We detected the c.283C > T variant in FGF3 that was seen in a Qatari patient and found to be associated with NSHL for the first time. The overall diagnostic yield was 30.7%, and the diagnostic yield was significantly associated with genetic testing using GJB2 sequencing and using the hearing loss (HL) gene panel. The diagnostic yield for targeted familial testing was 60% (n = 3 patients) and for gene panel was 50% (n = 5). Thus, we recommend using GJB2 gene sequencing as a first-tier genetic test and HL gene panel as a second-tier genetic test for NSHL. Our work provided new insights into the genetic pool of NSHL among Arabs and highlights its unique diversity, this is believed to help further in the diagnostic and management options for NSHL Arab patients.
راعي المشروعOpen Access funding provided by the Qatar National Library.
اللغةen
الناشرSpringer Nature
الموضوعpediatrics
Qatar
العنوانThe genetic basis and the diagnostic yield of genetic testing related to nonsyndromic hearing loss in Qatar
النوعArticle
رقم العدد1
رقم المجلد14
dc.accessType Open Access


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