3 351

Cited 20 times in

Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations

Authors
 H.J. Lee  ;  J. Jung  ;  J.W. Shin  ;  M.H. Song  ;  S.H. Kim  ;  J.-H. Lee  ;  K.-A. Lee  ;  S. Shin  ;  U.-K. Kim  ;  J. Bok  ;  K.-Y. Lee  ;  J.Y. Choi  ;  H.J. Park 
Citation
 CLINICAL GENETICS, Vol.86(3) : 270-275, 2014 
Journal Title
 CLINICAL GENETICS 
ISSN
 0009-9163 
Issue Date
2014
MeSH
Deafness/genetics* ; Deafness/pathology* ; Gene Frequency ; Genotype* ; HEK293 Cells ; Humans ; Membrane Transport Proteins/genetics* ; Membrane Transport Proteins/metabolism ; Mutation/genetics* ; Phenotype* ; Republic of Korea ; Vestibular Aqueduct/pathology
Keywords
Mondini dysplasia ; RNA splicing ; anion exchanger ; pendred syndrome
Abstract
Mutation of SLC26A4 is the most common cause of prelingual hearing loss in East Asia. Patients with SLC26A4 mutations have variable phenotypes ranging from non-syndromic hearing loss to Pendred syndrome. Here, we analyzed the correlation between genotype and various inner ear phenotypes and found a possible underlying mechanism. This study included 111 patients with bi-allelic SLC26A4 mutations who had bilateral enlarged vestibular aqueduct (EVA) and hearing loss. p.H723R (61%), c.919-2A>G (24%), and p.T410M (4%) were the most common mutations in Korean patients with EVAs. Residual hearing in patients with c.919-2A>G or p.T410M mutations was better than that of patients with p.H723R homozygous mutations. Interestingly, quantitative polymerase chain reaction showed normal pendrin transcript (6–17% of normal levels) was produced from patients with c.919-2A>G homozygous mutations. Surface expression ratio of pendrin and residual anion exchange activity were higher in cells transfected with p.T410M in comparison to cells transfected with p.H723R. These results suggest that there is a correlation between degree of residual hearing and the SLC26A4 genotype commonly found in the East Asian population.
Full Text
http://onlinelibrary.wiley.com/doi/10.1111/cge.12273/abstract
DOI
10.1111/cge.12273
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Anatomy (해부학교실) > 1. Journal Papers
Yonsei Authors
Bok, Jin Woong(복진웅) ORCID logo https://orcid.org/0000-0003-1958-1872
Jung, Jinsei(정진세) ORCID logo https://orcid.org/0000-0003-1906-6969
Choi, Jae Young(최재영) ORCID logo https://orcid.org/0000-0001-9493-3458
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/99416
사서에게 알리기
  feedback

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse

Links