c.464A>G variation in the GJB2 gene is detected in a Han Chinese family

We report two heterozygous carriers of c.464A>G variation in the GJB2 gene in a Chinese pedigree. The proband with hearing loss most likely inherited the c.464A>G variation from his mother who also carries heterozygous c.79G>A variation and has normal hearing. The pathological significance...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhu, Gang‐Hua, Shu, Hong‐Ying, Zhou, Hai‐Yan, Chen, Yong, Zhou, Fei, Ni, Bin, Xie, Wanqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676280/
https://www.ncbi.nlm.nih.gov/pubmed/29152271
http://dx.doi.org/10.1002/ccr3.1184
_version_ 1783277034460413952
author Zhu, Gang‐Hua
Shu, Hong‐Ying
Zhou, Hai‐Yan
Chen, Yong
Zhou, Fei
Ni, Bin
Xie, Wanqin
author_facet Zhu, Gang‐Hua
Shu, Hong‐Ying
Zhou, Hai‐Yan
Chen, Yong
Zhou, Fei
Ni, Bin
Xie, Wanqin
author_sort Zhu, Gang‐Hua
collection PubMed
description We report two heterozygous carriers of c.464A>G variation in the GJB2 gene in a Chinese pedigree. The proband with hearing loss most likely inherited the c.464A>G variation from his mother who also carries heterozygous c.79G>A variation and has normal hearing. The pathological significance of c.464A>G variation remains to be determined.
format Online
Article
Text
id pubmed-5676280
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-56762802017-11-17 c.464A>G variation in the GJB2 gene is detected in a Han Chinese family Zhu, Gang‐Hua Shu, Hong‐Ying Zhou, Hai‐Yan Chen, Yong Zhou, Fei Ni, Bin Xie, Wanqin Clin Case Rep Case Reports We report two heterozygous carriers of c.464A>G variation in the GJB2 gene in a Chinese pedigree. The proband with hearing loss most likely inherited the c.464A>G variation from his mother who also carries heterozygous c.79G>A variation and has normal hearing. The pathological significance of c.464A>G variation remains to be determined. John Wiley and Sons Inc. 2017-09-15 /pmc/articles/PMC5676280/ /pubmed/29152271 http://dx.doi.org/10.1002/ccr3.1184 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Zhu, Gang‐Hua
Shu, Hong‐Ying
Zhou, Hai‐Yan
Chen, Yong
Zhou, Fei
Ni, Bin
Xie, Wanqin
c.464A>G variation in the GJB2 gene is detected in a Han Chinese family
title c.464A>G variation in the GJB2 gene is detected in a Han Chinese family
title_full c.464A>G variation in the GJB2 gene is detected in a Han Chinese family
title_fullStr c.464A>G variation in the GJB2 gene is detected in a Han Chinese family
title_full_unstemmed c.464A>G variation in the GJB2 gene is detected in a Han Chinese family
title_short c.464A>G variation in the GJB2 gene is detected in a Han Chinese family
title_sort c.464a>g variation in the gjb2 gene is detected in a han chinese family
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676280/
https://www.ncbi.nlm.nih.gov/pubmed/29152271
http://dx.doi.org/10.1002/ccr3.1184
work_keys_str_mv AT zhuganghua c464agvariationinthegjb2geneisdetectedinahanchinesefamily
AT shuhongying c464agvariationinthegjb2geneisdetectedinahanchinesefamily
AT zhouhaiyan c464agvariationinthegjb2geneisdetectedinahanchinesefamily
AT chenyong c464agvariationinthegjb2geneisdetectedinahanchinesefamily
AT zhoufei c464agvariationinthegjb2geneisdetectedinahanchinesefamily
AT nibin c464agvariationinthegjb2geneisdetectedinahanchinesefamily
AT xiewanqin c464agvariationinthegjb2geneisdetectedinahanchinesefamily

Ejemplares similares