Progress of common gene mutations and detection methods of non-syndromic inherited hearing impair-ment
10.3760/cma.j.issn.1673-4408.2016.02.006
- VernacularTitle:非综合征型遗传性耳聋常见基因突变及检测方法的研究进展
- Author:
Xiaomei LU
;
Qi PENG
;
Siping LI
- Publication Type:Journal Article
- Keywords:
Nonsyndromic hearing loss;
Genetic diagnosis;
Pathogenic gene
- From:
International Journal of Pediatrics
2016;43(2):109-112,118
- CountryChina
- Language:Chinese
-
Abstract:
Deafness is a seriously disabling disease affecting the quality of human life and genetic fac-tors account for a large proportion in the pathogenesis of newborn deafness.With the development of genomics technology,molecular genetics of hearing loss has become a cutting-edge field under investigation in otology. Molecular diagnostic technique plays an important role in exploring the pathogenesis,assisting clinical diagnosis and the prenatal diagnosis.In this review,we introduce the common pathogenic gene mutations and the diagnosis of non-syndromic inherited hearing impairment.
