The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype.
- Author:
Shasha HUANG
;
Bangqing HUANG
;
Yongyi YUAN
;
Guojian WANG
;
Pu DAI
- Publication Type:Journal Article
- MeSH:
Asian Continental Ancestry Group;
Connexin 26;
Connexins;
genetics;
Deafness;
genetics;
Hearing Loss;
Hearing Loss, Sensorineural;
Humans;
Keratoderma, Palmoplantar;
Mutation;
Phenotype
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2014;28(22):1744-1747
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:Mutations in the GJB2 are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss. A few mutations in GJB2 have also been reported to cause dominant nonsyndromic or syndromic hearing loss. This study analysised the GJB2 dominant mutation in Chinese deafness.
METHOD:1641 patients as GJB2-related hearing loss were enrolled, summarized the type of dominant mutaion, analyzed the hearing level and other systerm lesion.
RESULT:Nine probands with severe-profound hearing loss were diagnosed as GJB2 domiant mutation (R75W,G130V, R143Q,p. R184Q). And one patient with R75W mutation was diagosed as hearing loss and palmoplantar keratoderma.
CONCLUSION:GJB2 dominant mutation can cause severe-to-profound bilateral sensorineural hearing impairment and not common with syndromic hearing loss in Chinese deafness.
