c.359T>C mutation of the MYH14 gene in two autosomal dominant non-syndromic hearing impairment families with common ancestor.
- Author:
Rong YANG
1
;
Hu LI
;
Cheng-xiong ZHAN
;
Hai-yan MAO
;
Tai-lan ZHAN
;
Zheng-feng ZHU
;
Ping LIU
;
Wen-lin YUAN
;
Tie KE
;
Qing WANG
;
Mu-gen LIU
;
Zhao-hui TANG
Author Information
- Publication Type:Journal Article
- MeSH: Female; Hearing Loss; genetics; Humans; Male; Microsatellite Repeats; genetics; Mutation; Myosin Heavy Chains; genetics; Myosin Type II; genetics; Pedigree; Polymerase Chain Reaction
- From: Chinese Journal of Medical Genetics 2010;27(3):259-262
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the gene mutation for two Chinese families with autosomal dominant non-syndromic hearing impairment(NSHI).
METHODSTwo 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.
RESULTSThe 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.
CONCLUSIONIt 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.
