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Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss
Nonsyndromic hearing loss has been shown to have high genetic heterogeneity. In this report, we aimed to disclose the genetic causes of the subjects from the ten Chinese deaf families who did not have pathogenic common genes/mutation. Next-generation sequencing (NGS) of 142 known deafness genes was...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079373/ https://www.ncbi.nlm.nih.gov/pubmed/30123251 http://dx.doi.org/10.1155/2018/4920980 |
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author | Hu, Songqun Sun, Feifei Zhang, Jie Tang, Yan Qiu, Jinhong Wang, Zhixia Zhang, Luping |
author_facet | Hu, Songqun Sun, Feifei Zhang, Jie Tang, Yan Qiu, Jinhong Wang, Zhixia Zhang, Luping |
author_sort | Hu, Songqun |
collection | PubMed |
description | Nonsyndromic hearing loss has been shown to have high genetic heterogeneity. In this report, we aimed to disclose the genetic causes of the subjects from the ten Chinese deaf families who did not have pathogenic common genes/mutation. Next-generation sequencing (NGS) of 142 known deafness genes was performed in the probands of ten families followed by cosegregation analysis of all family members. We identified novel pathogenic variants in six families including p.D1806E/p.R1588W, p.R964W/p.R1588W, and p.G17C/p.G1449D in CDH23; p.T584M/p.D1939N in LOXHD1; p.P1225L in MYO7A; and p.K612X in EYA4. Sanger sequencing confirmed that these mutations segregated with the hearing loss of each family. In four families, no pathogenic variants were identified. Our study provided better understanding of the mutation spectrum of hearing loss in the Chinese population. |
format | Online Article Text |
id | pubmed-6079373 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
spelling | pubmed-60793732018-08-19 Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss Hu, Songqun Sun, Feifei Zhang, Jie Tang, Yan Qiu, Jinhong Wang, Zhixia Zhang, Luping Neural Plast Research Article Nonsyndromic hearing loss has been shown to have high genetic heterogeneity. In this report, we aimed to disclose the genetic causes of the subjects from the ten Chinese deaf families who did not have pathogenic common genes/mutation. Next-generation sequencing (NGS) of 142 known deafness genes was performed in the probands of ten families followed by cosegregation analysis of all family members. We identified novel pathogenic variants in six families including p.D1806E/p.R1588W, p.R964W/p.R1588W, and p.G17C/p.G1449D in CDH23; p.T584M/p.D1939N in LOXHD1; p.P1225L in MYO7A; and p.K612X in EYA4. Sanger sequencing confirmed that these mutations segregated with the hearing loss of each family. In four families, no pathogenic variants were identified. Our study provided better understanding of the mutation spectrum of hearing loss in the Chinese population. Hindawi 2018-07-05 /pmc/articles/PMC6079373/ /pubmed/30123251 http://dx.doi.org/10.1155/2018/4920980 Text en Copyright © 2018 Songqun Hu et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Hu, Songqun Sun, Feifei Zhang, Jie Tang, Yan Qiu, Jinhong Wang, Zhixia Zhang, Luping Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss |
title | Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss |
title_full | Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss |
title_fullStr | Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss |
title_full_unstemmed | Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss |
title_short | Genetic Etiology Study of Ten Chinese Families with Nonsyndromic Hearing Loss |
title_sort | genetic etiology study of ten chinese families with nonsyndromic hearing loss |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6079373/ https://www.ncbi.nlm.nih.gov/pubmed/30123251 http://dx.doi.org/10.1155/2018/4920980 |
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