Molecular analysis of SLC26A4 gene in a Chinese deafness family.
OBJECTIVE
To identify the pathogenic gene for a non-syndromic hearing loss family.


METHODS
Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons of SLC26A4 (solute carrier family 26, member 4) gene.


RESULTS
Compound 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.


CONCLUSIONS
The proband's hearing loss resulted from the compound heterozygous mutations N392Y and S448X for SLC26A4 gene.
Hu
Hao
H
National Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410078 PR China.
Liang
De-sheng
DS
Wu
Ling-qian
LQ
Feng
Yong
Y
Cai
Fang
F
Xia
Kun
K
Pan
Qian
Q
Long
Zhi-gao
ZG
Dai
He-ping
HP
Xia
Jia-hui
JH
D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D003638:Deafness / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D000076988:Sulfate Transporters; D014057:Tomography, X-Ray Computed
D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters