Cargando…
Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2
BACKGROUND: Mutations in the GJB2 gene are the most common cause of nonsyndromic recessive hearing loss in China. In about 6% of Chinese patients with severe to profound sensorineural hearing impairment, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity have be...
Autores principales: | , , , , , , , , |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2010
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014891/ https://www.ncbi.nlm.nih.gov/pubmed/21122151 http://dx.doi.org/10.1186/1479-5876-8-127 |
_version_ | 1782195414203629568 |
---|---|
author | Yuan, Yongyi Yu, Fei Wang, Guojian Huang, Shasha Yu, Ruili Zhang, Xin Huang, Deliang Han, Dongyi Dai, Pu |
author_facet | Yuan, Yongyi Yu, Fei Wang, Guojian Huang, Shasha Yu, Ruili Zhang, Xin Huang, Deliang Han, Dongyi Dai, Pu |
author_sort | Yuan, Yongyi |
collection | PubMed |
description | BACKGROUND: Mutations in the GJB2 gene are the most common cause of nonsyndromic recessive hearing loss in China. In about 6% of Chinese patients with severe to profound sensorineural hearing impairment, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity have been identified. This paper reports the prevalence of the GJB2 IVS1+1G>A mutation in a population of Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2. METHODS: Two hundred and twelve patients, screened from 7133 cases of nonsyndromic hearing loss in China, with monoallelic mutation (mainly frameshift and nonsense mutation) in the coding region of GJB2 were examined for the GJB2 IVS1+1G>A mutation and mutations in the promoter region of this gene. Two hundred and sixty-two nonsyndromic hearing loss patients without GJB2 mutation and 105 controls with normal hearing were also tested for the GJB2 IVS1+1G>A mutation by sequencing. RESULTS: Four patients with monoallelic mutation in the coding region of GJB2 were found carrying the GJB2 IVS1+1G>A mutation on the opposite allele. One patient with the GJB2 c.235delC mutation carried one variant, -3175 C>T, in exon 1 of GJB2. Neither GJB2 IVS1+1G>A mutation nor any variant in exon 1 of GJB2 was found in the 262 nonsyndromic hearing loss patients without GJB2 mutation or in the 105 normal hearing controls. CONCLUSION: Testing for the GJB2 IVS 1+1 G to A mutation explained deafness in 1.89% of Chinese GJB2 monoallelic patients, and it should be included in routine testing of patients with GJB2 monoallelic pathogenic mutation. |
format | Text |
id | pubmed-3014891 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-30148912011-01-05 Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2 Yuan, Yongyi Yu, Fei Wang, Guojian Huang, Shasha Yu, Ruili Zhang, Xin Huang, Deliang Han, Dongyi Dai, Pu J Transl Med Research BACKGROUND: Mutations in the GJB2 gene are the most common cause of nonsyndromic recessive hearing loss in China. In about 6% of Chinese patients with severe to profound sensorineural hearing impairment, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity have been identified. This paper reports the prevalence of the GJB2 IVS1+1G>A mutation in a population of Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2. METHODS: Two hundred and twelve patients, screened from 7133 cases of nonsyndromic hearing loss in China, with monoallelic mutation (mainly frameshift and nonsense mutation) in the coding region of GJB2 were examined for the GJB2 IVS1+1G>A mutation and mutations in the promoter region of this gene. Two hundred and sixty-two nonsyndromic hearing loss patients without GJB2 mutation and 105 controls with normal hearing were also tested for the GJB2 IVS1+1G>A mutation by sequencing. RESULTS: Four patients with monoallelic mutation in the coding region of GJB2 were found carrying the GJB2 IVS1+1G>A mutation on the opposite allele. One patient with the GJB2 c.235delC mutation carried one variant, -3175 C>T, in exon 1 of GJB2. Neither GJB2 IVS1+1G>A mutation nor any variant in exon 1 of GJB2 was found in the 262 nonsyndromic hearing loss patients without GJB2 mutation or in the 105 normal hearing controls. CONCLUSION: Testing for the GJB2 IVS 1+1 G to A mutation explained deafness in 1.89% of Chinese GJB2 monoallelic patients, and it should be included in routine testing of patients with GJB2 monoallelic pathogenic mutation. BioMed Central 2010-12-02 /pmc/articles/PMC3014891/ /pubmed/21122151 http://dx.doi.org/10.1186/1479-5876-8-127 Text en Copyright ©2010 Yuan et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<url>http://creativecommons.org/licenses/by/2.0</url>), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Yuan, Yongyi Yu, Fei Wang, Guojian Huang, Shasha Yu, Ruili Zhang, Xin Huang, Deliang Han, Dongyi Dai, Pu Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2 |
title | Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2 |
title_full | Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2 |
title_fullStr | Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2 |
title_full_unstemmed | Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2 |
title_short | Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2 |
title_sort | prevalence of the gjb2 ivs1+1g >a mutation in chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of gjb2 |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014891/ https://www.ncbi.nlm.nih.gov/pubmed/21122151 http://dx.doi.org/10.1186/1479-5876-8-127 |
work_keys_str_mv | AT yuanyongyi prevalenceofthegjb2ivs11gamutationinchinesehearinglosspatientswithmonoallelicpathogenicmutationinthecodingregionofgjb2 AT yufei prevalenceofthegjb2ivs11gamutationinchinesehearinglosspatientswithmonoallelicpathogenicmutationinthecodingregionofgjb2 AT wangguojian prevalenceofthegjb2ivs11gamutationinchinesehearinglosspatientswithmonoallelicpathogenicmutationinthecodingregionofgjb2 AT huangshasha prevalenceofthegjb2ivs11gamutationinchinesehearinglosspatientswithmonoallelicpathogenicmutationinthecodingregionofgjb2 AT yuruili prevalenceofthegjb2ivs11gamutationinchinesehearinglosspatientswithmonoallelicpathogenicmutationinthecodingregionofgjb2 AT zhangxin prevalenceofthegjb2ivs11gamutationinchinesehearinglosspatientswithmonoallelicpathogenicmutationinthecodingregionofgjb2 AT huangdeliang prevalenceofthegjb2ivs11gamutationinchinesehearinglosspatientswithmonoallelicpathogenicmutationinthecodingregionofgjb2 AT handongyi prevalenceofthegjb2ivs11gamutationinchinesehearinglosspatientswithmonoallelicpathogenicmutationinthecodingregionofgjb2 AT daipu prevalenceofthegjb2ivs11gamutationinchinesehearinglosspatientswithmonoallelicpathogenicmutationinthecodingregionofgjb2 |