Molecular analysis of SLC26A4 gene in a Chinese deafness family.
- Author:
Hao HU
1
;
De-sheng LIANG
;
Ling-qian WU
;
Yong FENG
;
Fang CAI
;
Kun XIA
;
Qian PAN
;
Zhi-gao LONG
;
He-ping DAI
;
Jia-hui XIA
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Base Sequence; DNA Mutational Analysis; Deafness; diagnostic imaging; genetics; pathology; Family Health; Female; Humans; Male; Membrane Transport Proteins; genetics; Molecular Sequence Data; Mutation; Polymerase Chain Reaction; Tomography, X-Ray Computed
- From: Chinese Journal of Medical Genetics 2005;22(4):376-379
- CountryChina
- Language:English
-
Abstract:
OBJECTIVETo identify the pathogenic gene for a non-syndromic hearing loss family.
METHODSMutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons of SLC26A4 (solute carrier family 26, member 4) gene.
RESULTSCompound heterozygous mutations N392Y and S448X were detected in the proband of the family, heterozygous mutation S448X was detected in the father, heterozygous mutation N392Y was detected in the mother.
CONCLUSIONThe proband's hearing loss resulted from the compound heterozygous mutations N392Y and S448X for SLC26A4 gene.
