Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.

Autor: Alerasool M; Faculty of Medicine, Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran.; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Genetic Laboratory, Genetic Foundation of Khorasan Razavi, Mashhad, Iran., Eslahi A; Faculty of Medicine, Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran.; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany., Kahaei MS; Faculty of Medicine, Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran.; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Mojaver NK; Genetic Laboratory, Genetic Foundation of Khorasan Razavi, Mashhad, Iran., Rajati M; Sinus and Surgical Endoscopic Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Chochlear Implantation Department, Ear Foundation Research Center, Mashhad, Iran., Pasdar A; Faculty of Medicine, Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran., Ghasemi MM; Sinus and Surgical Endoscopic Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Chochlear Implantation Department, Ear Foundation Research Center, Mashhad, Iran., Saburi E; Faculty of Medicine, Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran., Ardehaie RM; Faculty of Medicine, Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran.; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Aval MH; Chochlear Implantation Department, Ear Foundation Research Center, Mashhad, Iran.; Paramedical and Rehabilitation Faculty, University of Medical Sciences, Mashhad, Iran.; Chochlear Implantation Division, Khorasan Cochlear Implant Center, Mashhad, Iran., Tale MR; Chochlear Implantation Department, Ear Foundation Research Center, Mashhad, Iran.; Chochlear Implantation Division, Khorasan Cochlear Implant Center, Mashhad, Iran., Nourizadeh N; Sinus and Surgical Endoscopic Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Chochlear Implantation Department, Ear Foundation Research Center, Mashhad, Iran., Afzalzadeh MR; Sinus and Surgical Endoscopic Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Chochlear Implantation Department, Ear Foundation Research Center, Mashhad, Iran., Niknezhad HT; Chochlear Implantation Department, Ear Foundation Research Center, Mashhad, Iran.; Chochlear Implantation Division, Khorasan Cochlear Implant Center, Mashhad, Iran., Mojarrad M; Faculty of Medicine, Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran.; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.; Genetic Laboratory, Genetic Foundation of Khorasan Razavi, Mashhad, Iran.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2024 Dec; Vol. 106 (6), pp. 693-701. Date of Electronic Publication: 2024 Aug 06.
DOI: 10.1111/cge.14599
Abstrakt: Hearing loss is one of the most prevalent genetic disorders in humans. Locus and allelic heterogeneity cause fundamental challenges in hearing loss genetic diagnosis and management of patients and their families. This study examined the genetic profile of patients with prelingual hearing loss who were referred to the Genetic Foundation of Khorasan Razavi spanning over a decade. Deleterious variants in GJB2 were evaluated through Sanger sequencing among 745 non-syndromic hearing loss patients. Furthermore, exome sequencing was applied in 250 patients with negative GJB2 sequencing results and 30 patients with syndromic hearing loss. The findings revealed a relatively low frequency of GJB2 variants among the studied patients. Exome sequencing successfully identified the genetic causes of hearing loss in 70% of the patients. Moreover, variants in 10 genes, namely SLC26A4, MYO15A, TMPRSS3, TMC1, OTOF, CDH23, PJVK, MYO7A, TECTA, and PCDH15, accounted for 66% of the positive exome sequencing findings in this study. At least three prevalent founder alleles in the hearing-impaired population of eastern Iran were identified. This study emphasizes the efficiency of exome sequencing as a powerful tool for determining the etiology of prelingual hearing loss in the eastern Iranian population.
(© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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