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Variant analysis of 92 Chinese Han families with hearing loss

BACKGROUND: Hearing loss (HL) is the most frequent sensory deficit in humans, HL has strong genetic heterogeneity. The genetic diagnosis of HL is very important to aid treatment decisions and to provide prognostic information and genetic counseling for the patient’s family. METHODS: We undertook ped...

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Autores principales: Jin, Xiaohua, Huang, Shasha, An, Lisha, Zhang, Chuan, Dai, Pu, Gao, Huafang, Ma, Xu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8781451/
https://www.ncbi.nlm.nih.gov/pubmed/35062939
http://dx.doi.org/10.1186/s12920-022-01158-3
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author Jin, Xiaohua
Huang, Shasha
An, Lisha
Zhang, Chuan
Dai, Pu
Gao, Huafang
Ma, Xu
author_facet Jin, Xiaohua
Huang, Shasha
An, Lisha
Zhang, Chuan
Dai, Pu
Gao, Huafang
Ma, Xu
author_sort Jin, Xiaohua
collection PubMed
description BACKGROUND: Hearing loss (HL) is the most frequent sensory deficit in humans, HL has strong genetic heterogeneity. The genetic diagnosis of HL is very important to aid treatment decisions and to provide prognostic information and genetic counseling for the patient’s family. METHODS: We undertook pedigree analysis in 92 Chinese non-syndromic HL patients by targeted next-generation sequencing and Sanger sequencing. RESULTS: Among the 92 HL patients, 18 were assigned a molecular diagnosis with 33 different variants in 14 deafness genes. Eighteen of the variants in 12 deafness genes were novel. Variants in TMC1, CDH23, LOXHD1 and USH2A were each detected in two probands, and variants in POU3F4, OTOA, GPR98, GJB6, TRIOBP, SLC26A4, MYO15A, TNC, STRC and TMPRSS3 were each detected in one proband. CONCLUSION: Our findings expand the spectrum of deafness gene variation, which will inform genetic diagnosis of deafness and add to the theoretical basis for the prevention of deafness.
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spelling pubmed-87814512022-01-24 Variant analysis of 92 Chinese Han families with hearing loss Jin, Xiaohua Huang, Shasha An, Lisha Zhang, Chuan Dai, Pu Gao, Huafang Ma, Xu BMC Med Genomics Research Article BACKGROUND: Hearing loss (HL) is the most frequent sensory deficit in humans, HL has strong genetic heterogeneity. The genetic diagnosis of HL is very important to aid treatment decisions and to provide prognostic information and genetic counseling for the patient’s family. METHODS: We undertook pedigree analysis in 92 Chinese non-syndromic HL patients by targeted next-generation sequencing and Sanger sequencing. RESULTS: Among the 92 HL patients, 18 were assigned a molecular diagnosis with 33 different variants in 14 deafness genes. Eighteen of the variants in 12 deafness genes were novel. Variants in TMC1, CDH23, LOXHD1 and USH2A were each detected in two probands, and variants in POU3F4, OTOA, GPR98, GJB6, TRIOBP, SLC26A4, MYO15A, TNC, STRC and TMPRSS3 were each detected in one proband. CONCLUSION: Our findings expand the spectrum of deafness gene variation, which will inform genetic diagnosis of deafness and add to the theoretical basis for the prevention of deafness. BioMed Central 2022-01-21 /pmc/articles/PMC8781451/ /pubmed/35062939 http://dx.doi.org/10.1186/s12920-022-01158-3 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research Article
Jin, Xiaohua
Huang, Shasha
An, Lisha
Zhang, Chuan
Dai, Pu
Gao, Huafang
Ma, Xu
Variant analysis of 92 Chinese Han families with hearing loss
title Variant analysis of 92 Chinese Han families with hearing loss
title_full Variant analysis of 92 Chinese Han families with hearing loss
title_fullStr Variant analysis of 92 Chinese Han families with hearing loss
title_full_unstemmed Variant analysis of 92 Chinese Han families with hearing loss
title_short Variant analysis of 92 Chinese Han families with hearing loss
title_sort variant analysis of 92 chinese han families with hearing loss
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8781451/
https://www.ncbi.nlm.nih.gov/pubmed/35062939
http://dx.doi.org/10.1186/s12920-022-01158-3
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