A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.
BMC Med Genet
; 8: 26, 2007 May 22.
Article
in En
| MEDLINE
| ID: mdl-17517145
ABSTRACT
BACKGROUND:
Wolfram syndrome gene 1 (WFS1) accounts for most of the familial nonsyndromic low-frequency sensorineural hearing loss (LFSNHL) which is characterized by sensorineural hearing losses equal to and below 2000 Hz. The current study aimed to contribute to our understanding of the molecular basis of LFSNHL in an affected Taiwanese family.METHODS:
The Taiwanese family with LFSNHL was phenotypically characterized using audiologic examination and pedigree analysis. Genetic characterization was performed by direct sequencing of WFS1 and mutation analysis.RESULTS:
Pure tone audiometry confirmed that the family members affected with LFSNHL had a bilateral sensorineural hearing loss equal to or below 2000 Hz. The hearing loss threshold of the affected members showed no progression, a characteristic that was consistent with a mutation in the WFS1 gene located in the DFNA6/14/38 locus. Pedigree analysis showed a hereditarily autosomal dominant pattern characterized by a full penetrance. Among several polymorphisms, a missense mutation Y669H (2005T>C) in exon 8 of WFS1 was identified in members of a Taiwanese family diagnosed with LFSNHL but not in any of the control subjects.CONCLUSION:
We discovered a novel heterozygous missense mutation in exon 8 of WFS1 (i.e., Y669H) which is likely responsible for the LFSNHL phenotype in this particular Taiwanese family.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Wolfram Syndrome
/
Mutation, Missense
/
Hearing Loss, Sensorineural
/
Membrane Proteins
Type of study:
Prognostic_studies
Limits:
Humans
Country/Region as subject:
Asia
Language:
En
Journal:
BMC Med Genet
Journal subject:
GENETICA MEDICA
Year:
2007
Document type:
Article
Affiliation country:
Taiwan