An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene.

Autor: Mohseni M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Mohammadi Y; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Zare Ashrafi F; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Ghodratpour F; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Jalalvand K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Arzhangi S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Babanejad M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Azizi MH; Associate Professor of Otolaryngology, Academy of Medical Sciences of IR Iran, Tehran, Iran., Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Jazyk: angličtina
Zdroj: Archives of Iranian medicine [Arch Iran Med] 2023 Mar 01; Vol. 26 (3), pp. 176-180. Date of Electronic Publication: 2023 Mar 01.
DOI: 10.34172/aim.2023.27
Abstrakt: Genetic analysis of non-syndromic hearing loss (NSHL) has been challenged due to marked clinical and genetic heterogeneity. Today, advanced next-generation sequencing (NGS) technologies, such as exome sequencing (ES), have drastically increased the efficacy of gene identification in heterogeneous Mendelian disorders. Here, we present the utility of ES and re-evaluate the phenotypic data for identifying candidate causal variants for previously unexplained progressive moderate to severe NSHL in an extended Iranian family. Using this method, we identified a known heterozygous nonsense variant in exon 26 of the DIAPH1 gene (MIM: 602121), which led to "Deafness, autosomal dominant 1, with or without thrombocytopenia; DFNA1" (MIM: 124900) in this large family in the absence of GJB2 disease-causing variants and also OtoSCOPE-negative results. To the best of our knowledge, this nonsense variant (NM_001079812.3):c.3610C>T (p.Arg1204Ter) is the first report of the DIAPH1 gene variant for autosomal dominant non-syndromic hearing loss (ADNSHL) in Iran.
(© 2023 The Author(s). This is an open-access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.)
Databáze: MEDLINE
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