Cargando…
Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population
Discriminating between inherited and non-inherited sporadic hearing loss is challenging. Here, we attempted to delineate genetic inheritance in simplex cases of severe-to-profound congenital hearing loss in Korean children. Variations in SLC26A4 and GJB2 in 28 children with bilateral severe-to-profo...
Autores principales: | , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382691/ https://www.ncbi.nlm.nih.gov/pubmed/28383030 http://dx.doi.org/10.1038/srep45973 |
_version_ | 1782520149444657152 |
---|---|
author | Jung, Jinsei Lee, Joon Suk Cho, Kyeong Jee Yu, Seyoung Yoon, Joo-Heon Yung Gee, Heon Choi, Jae Young |
author_facet | Jung, Jinsei Lee, Joon Suk Cho, Kyeong Jee Yu, Seyoung Yoon, Joo-Heon Yung Gee, Heon Choi, Jae Young |
author_sort | Jung, Jinsei |
collection | PubMed |
description | Discriminating between inherited and non-inherited sporadic hearing loss is challenging. Here, we attempted to delineate genetic inheritance in simplex cases of severe-to-profound congenital hearing loss in Korean children. Variations in SLC26A4 and GJB2 in 28 children with bilateral severe-to-profound non-syndromic hearing loss (NSHL) without familial history were analyzed using Sanger sequencing. Genetic analysis of individuals without mutations in SLC26A4 and GJB2 was performed by whole exome sequencing (WES). Bi-allelic mutations in SLC26A4 and GJB2 were identified in 12 and 3 subjects, respectively. Of the 13 individuals without mutations in SLC26A4 and GJB2, 2 and 1 carried compound heterozygous mutations in MYO15A and CDH23, respectively. Thus, 64.3% (18/28) of individuals with NSHL were determined to be genetically predisposed. Individuals with sporadic severe-to-profound NSHL were found to mostly exhibit an autosomal recessive inheritance pattern. Novel causative candidate genes for NSHL were identified by analysis of WES data of 10 families without mutations in known causative genes. Bi-allelic mutations predisposing to NSHL were identified in 64.3% of subjects with sporadic severe-to-profound NSHL. Given that several causative genes for NSHL are still unidentified, genetic inheritance of sporadic congenital hearing loss could be more common than that indicated by our results. |
format | Online Article Text |
id | pubmed-5382691 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | Nature Publishing Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-53826912017-04-11 Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population Jung, Jinsei Lee, Joon Suk Cho, Kyeong Jee Yu, Seyoung Yoon, Joo-Heon Yung Gee, Heon Choi, Jae Young Sci Rep Article Discriminating between inherited and non-inherited sporadic hearing loss is challenging. Here, we attempted to delineate genetic inheritance in simplex cases of severe-to-profound congenital hearing loss in Korean children. Variations in SLC26A4 and GJB2 in 28 children with bilateral severe-to-profound non-syndromic hearing loss (NSHL) without familial history were analyzed using Sanger sequencing. Genetic analysis of individuals without mutations in SLC26A4 and GJB2 was performed by whole exome sequencing (WES). Bi-allelic mutations in SLC26A4 and GJB2 were identified in 12 and 3 subjects, respectively. Of the 13 individuals without mutations in SLC26A4 and GJB2, 2 and 1 carried compound heterozygous mutations in MYO15A and CDH23, respectively. Thus, 64.3% (18/28) of individuals with NSHL were determined to be genetically predisposed. Individuals with sporadic severe-to-profound NSHL were found to mostly exhibit an autosomal recessive inheritance pattern. Novel causative candidate genes for NSHL were identified by analysis of WES data of 10 families without mutations in known causative genes. Bi-allelic mutations predisposing to NSHL were identified in 64.3% of subjects with sporadic severe-to-profound NSHL. Given that several causative genes for NSHL are still unidentified, genetic inheritance of sporadic congenital hearing loss could be more common than that indicated by our results. Nature Publishing Group 2017-04-06 /pmc/articles/PMC5382691/ /pubmed/28383030 http://dx.doi.org/10.1038/srep45973 Text en Copyright © 2017, The Author(s) http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
spellingShingle | Article Jung, Jinsei Lee, Joon Suk Cho, Kyeong Jee Yu, Seyoung Yoon, Joo-Heon Yung Gee, Heon Choi, Jae Young Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population |
title | Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population |
title_full | Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population |
title_fullStr | Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population |
title_full_unstemmed | Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population |
title_short | Genetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric Population |
title_sort | genetic predisposition to sporadic congenital hearing loss in a pediatric population |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5382691/ https://www.ncbi.nlm.nih.gov/pubmed/28383030 http://dx.doi.org/10.1038/srep45973 |
work_keys_str_mv | AT jungjinsei geneticpredispositiontosporadiccongenitalhearinglossinapediatricpopulation AT leejoonsuk geneticpredispositiontosporadiccongenitalhearinglossinapediatricpopulation AT chokyeongjee geneticpredispositiontosporadiccongenitalhearinglossinapediatricpopulation AT yuseyoung geneticpredispositiontosporadiccongenitalhearinglossinapediatricpopulation AT yoonjooheon geneticpredispositiontosporadiccongenitalhearinglossinapediatricpopulation AT yunggeeheon geneticpredispositiontosporadiccongenitalhearinglossinapediatricpopulation AT choijaeyoung geneticpredispositiontosporadiccongenitalhearinglossinapediatricpopulation |