Identification of four novel variants in the CDH23 gene from four affected families with hearing loss

Background: Hearing loss (HL) is the most common form of sensory disorder in humans. Molecular diagnosis of HL is important for genetic counseling for the affected individuals and their families. Methods: To identify potential genetic causes, we performed whole-exome sequencing and related biomedica...

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Autores principales: Kang, Baoling, Lu, Xinshu, Xiong, Jianjun, Li, Yuan, Zhu, Jinwen, Cai, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9713811/
https://www.ncbi.nlm.nih.gov/pubmed/36468022
http://dx.doi.org/10.3389/fgene.2022.1027396
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author Kang, Baoling
Lu, Xinshu
Xiong, Jianjun
Li, Yuan
Zhu, Jinwen
Cai, Tao
author_facet Kang, Baoling
Lu, Xinshu
Xiong, Jianjun
Li, Yuan
Zhu, Jinwen
Cai, Tao
author_sort Kang, Baoling
collection PubMed
description Background: Hearing loss (HL) is the most common form of sensory disorder in humans. Molecular diagnosis of HL is important for genetic counseling for the affected individuals and their families. Methods: To identify potential genetic causes, we performed whole-exome sequencing and related biomedical informatics for 351 non-syndromic HL patients and their family members. Results: In the present study, we report the identification of four compound heterozygous variants in the CDH23 gene from four affected families, including four novel variants (c.995C>A, p.T332K; c.2159G>A, p.R720Q; c.5534A>G, p.N1845S, and c.7055-1G>C) and two frequently reported variants (c.719C>T, p.P240L and c.4762C>T, p.R1588W). Conclusion: Our findings significantly expanded the mutation spectrum of CDH23-associated autosomal recessive hearing loss.
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spelling pubmed-97138112022-12-02 Identification of four novel variants in the CDH23 gene from four affected families with hearing loss Kang, Baoling Lu, Xinshu Xiong, Jianjun Li, Yuan Zhu, Jinwen Cai, Tao Front Genet Genetics Background: Hearing loss (HL) is the most common form of sensory disorder in humans. Molecular diagnosis of HL is important for genetic counseling for the affected individuals and their families. Methods: To identify potential genetic causes, we performed whole-exome sequencing and related biomedical informatics for 351 non-syndromic HL patients and their family members. Results: In the present study, we report the identification of four compound heterozygous variants in the CDH23 gene from four affected families, including four novel variants (c.995C>A, p.T332K; c.2159G>A, p.R720Q; c.5534A>G, p.N1845S, and c.7055-1G>C) and two frequently reported variants (c.719C>T, p.P240L and c.4762C>T, p.R1588W). Conclusion: Our findings significantly expanded the mutation spectrum of CDH23-associated autosomal recessive hearing loss. Frontiers Media S.A. 2022-11-17 /pmc/articles/PMC9713811/ /pubmed/36468022 http://dx.doi.org/10.3389/fgene.2022.1027396 Text en Copyright © 2022 Kang, Lu, Xiong, Li, Zhu and Cai. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Kang, Baoling
Lu, Xinshu
Xiong, Jianjun
Li, Yuan
Zhu, Jinwen
Cai, Tao
Identification of four novel variants in the CDH23 gene from four affected families with hearing loss
title Identification of four novel variants in the CDH23 gene from four affected families with hearing loss
title_full Identification of four novel variants in the CDH23 gene from four affected families with hearing loss
title_fullStr Identification of four novel variants in the CDH23 gene from four affected families with hearing loss
title_full_unstemmed Identification of four novel variants in the CDH23 gene from four affected families with hearing loss
title_short Identification of four novel variants in the CDH23 gene from four affected families with hearing loss
title_sort identification of four novel variants in the cdh23 gene from four affected families with hearing loss
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9713811/
https://www.ncbi.nlm.nih.gov/pubmed/36468022
http://dx.doi.org/10.3389/fgene.2022.1027396
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