USH2A gene mutations spectrum in Chinese different from Westerner
10.3760/cma.j.issn.2095-0160.2011.11.001
- VernacularTitle:中国人与欧美人USH2A基因突变谱不同
- Author:
Yang, LI
- Publication Type:Journal Article
- Keywords:
USH2A gene;
Usher syndrome;
Retinitis pigmentosa;
Congenital deaf;
Inheritance
- From:
Chinese Journal of Experimental Ophthalmology
2011;29(11):961-963
- CountryChina
- Language:Chinese
-
Abstract:
Usher syndrome (USH) is the most common syndromic retinitis pigmentosa (RP),which is an autosomal recessive disorder.RP is highly clinically and genetically heterogeneous.A total of 12 loci including nine genes have been identifiedas causing various clinical subtypes of USH.The USH2A gene is thought to be involved in the pathogenesis of most USH2 cases.Moreover,mutations of the USH2A gene is also responsible for atypical USH and nonsyndromic retinitis pigmentosa.Some studies found that the mutation spectrum among Chinese RP patients might differ from European Caucasians.Herein,the further survey should be performed to ascertain the hot gene mutation spectrum.
