[c.359T>C mutation of the MYH14 gene in two autosomal dominant non-syndromic hearing impairment families with common ancestor].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 27(3): 259-62, 2010 Jun.
Article
in Zh
| MEDLINE
| ID: mdl-20533261
ABSTRACT
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.CONCLUSION:
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Myosin Heavy Chains
/
Myosin Type II
/
Hearing Loss
Limits:
Female
/
Humans
/
Male
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Journal subject:
GENETICA MEDICA
Year:
2010
Document type:
Article