Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Sun, Lianhua, Lin, Zhengyu, Wang, Xiaowen, Shen, Jiali, Li, Yue, Huang, Yuyu, Yang, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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
_version_ 1784845159078297600
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
work_keys_str_mv AT sunlianhua molecularetiologystudyofhearinglossin13chinesehanfamilies
AT linzhengyu molecularetiologystudyofhearinglossin13chinesehanfamilies
AT wangxiaowen molecularetiologystudyofhearinglossin13chinesehanfamilies
AT shenjiali molecularetiologystudyofhearinglossin13chinesehanfamilies
AT liyue molecularetiologystudyofhearinglossin13chinesehanfamilies
AT huangyuyu molecularetiologystudyofhearinglossin13chinesehanfamilies
AT yangjun molecularetiologystudyofhearinglossin13chinesehanfamilies