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Molecular etiology study of hearing loss in 13 Chinese Han families
Hearing loss affecting about 2/1000 newborns is the most common congenital disease. Genetic defects caused approximately 70% of patients who have non-syndromic hearing loss. We recruited 13 Chinese Han deafness families who tested negative for GJB2, SLC26A4, and mitochondrial 12S rRNA. The probands...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9728030/ https://www.ncbi.nlm.nih.gov/pubmed/36504663 http://dx.doi.org/10.3389/fneur.2022.1048218 |
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author | Sun, Lianhua Lin, Zhengyu Wang, Xiaowen Shen, Jiali Li, Yue Huang, Yuyu Yang, Jun |
author_facet | Sun, Lianhua Lin, Zhengyu Wang, Xiaowen Shen, Jiali Li, Yue Huang, Yuyu Yang, Jun |
author_sort | Sun, Lianhua |
collection | PubMed |
description | Hearing loss affecting about 2/1000 newborns is the most common congenital disease. Genetic defects caused approximately 70% of patients who have non-syndromic hearing loss. We recruited 13 Chinese Han deafness families who tested negative for GJB2, SLC26A4, and mitochondrial 12S rRNA. The probands of each family were performed whole-exome sequencing (WES) or targeted next-generation sequencing (NGS) for known deafness genes to study for pathogenic causes. We found four novel mutations of CDH23, one novel mutation of MYO15A, one novel mutation of TMC1, one novel mutation of PAX3, and one novel mutation of ADGRV1, one novel CNV of ADGRV1, and one novel CNV of STRC. Hearing loss is a highly hereditary and heterogeneous disease. The results in the limited samples of this study show that Usher and Waardenburg syndrome-related genes account for a major proportion are strongly associated with Chinese Han hearing loss patients negative for GJB2, SLC26A4, and mitochondrial 12S rRNA, followed by STRC resulting in mild to moderate deafness. |
format | Online Article Text |
id | pubmed-9728030 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-97280302022-12-08 Molecular etiology study of hearing loss in 13 Chinese Han families Sun, Lianhua Lin, Zhengyu Wang, Xiaowen Shen, Jiali Li, Yue Huang, Yuyu Yang, Jun Front Neurol Neurology Hearing loss affecting about 2/1000 newborns is the most common congenital disease. Genetic defects caused approximately 70% of patients who have non-syndromic hearing loss. We recruited 13 Chinese Han deafness families who tested negative for GJB2, SLC26A4, and mitochondrial 12S rRNA. The probands of each family were performed whole-exome sequencing (WES) or targeted next-generation sequencing (NGS) for known deafness genes to study for pathogenic causes. We found four novel mutations of CDH23, one novel mutation of MYO15A, one novel mutation of TMC1, one novel mutation of PAX3, and one novel mutation of ADGRV1, one novel CNV of ADGRV1, and one novel CNV of STRC. Hearing loss is a highly hereditary and heterogeneous disease. The results in the limited samples of this study show that Usher and Waardenburg syndrome-related genes account for a major proportion are strongly associated with Chinese Han hearing loss patients negative for GJB2, SLC26A4, and mitochondrial 12S rRNA, followed by STRC resulting in mild to moderate deafness. Frontiers Media S.A. 2022-11-23 /pmc/articles/PMC9728030/ /pubmed/36504663 http://dx.doi.org/10.3389/fneur.2022.1048218 Text en Copyright © 2022 Sun, Lin, Wang, Shen, Li, Huang and Yang. 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 | Neurology Sun, Lianhua Lin, Zhengyu Wang, Xiaowen Shen, Jiali Li, Yue Huang, Yuyu Yang, Jun Molecular etiology study of hearing loss in 13 Chinese Han families |
title | Molecular etiology study of hearing loss in 13 Chinese Han families |
title_full | Molecular etiology study of hearing loss in 13 Chinese Han families |
title_fullStr | Molecular etiology study of hearing loss in 13 Chinese Han families |
title_full_unstemmed | Molecular etiology study of hearing loss in 13 Chinese Han families |
title_short | Molecular etiology study of hearing loss in 13 Chinese Han families |
title_sort | molecular etiology study of hearing loss in 13 chinese han families |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9728030/ https://www.ncbi.nlm.nih.gov/pubmed/36504663 http://dx.doi.org/10.3389/fneur.2022.1048218 |
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