[c.359T>C mutation of the MYH14 gene in two autosomal dominant non-syndromic hearing impairment families with common ancestor].
OBJECTIVE
To identify the gene mutation for two Chinese families with autosomal dominant non-syndromic hearing impairment(NSHI).


METHODS
Two NSHI pedigrees with common ancestor were identified by clinical examination and family investigation. Linkage analysis was performed for all known NSHI loci, and all exons and exon-intron boundaries of the non-muscle myosin heavy chain 14 (MYH14) gene were amplified by PCR and sequenced.


RESULTS
The disease-causing gene of these 2 pedigrees was fine mapped to the DFNA4 locus on 19q13.33. A heterozygous transition of c. 359T>C (p.S120L) in MYH14 gene was identified. The mutation was detected in all patients but not in normal members in the two families.


CONCLUSIONS
It is the first report that mutation in MYH14 gene can cause dominant non-syndromic hearing impairment in Asian population, suggesting that MYH14 gene can be a disease-causing gene of Chinese patients with hearing impairment.
Key Laboratory of Molecular Biophysics of Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, Hubei, 430074 PR China.
Rong
R
Yang
Hu
H
Li
Cheng-xiong
CX
Zhan
Hai-yan
HY
Mao
Tai-lan
TL
Zhan
Zheng-feng
ZF
Zhu
Ping
P
Liu
Wen-lin
WL
Yuan
Tie
T
Ke
Qing
Q
Wang
Mu-gen
MG
Liu
Zhao-hui
ZH
Tang
D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D024462:Myosin Type II / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction
D018995:Myosin Heavy Chains; D024462:Myosin Type II; C477830:MYH7b protein, human