[The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype].
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.


METHODS
1641 patients as GJB2-related hearing loss were enrolled, summarized the type of dominant mutaion, analyzed the hearing level and other systerm lesion.


RESULTS
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.


CONCLUSIONS
GJB2 dominant mutation can cause severe-to-profound bilateral sensorineural hearing impairment and not common with syndromic hearing loss in Chinese deafness.
Shasha
S
Huang
Bangqing
B
Huang
Yongyi
Y
Yuan
Guojian
G
Wang
Pu
P
Dai
D044466:Asian People; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D034381:Hearing Loss; D006319:Hearing Loss, Sensorineural; D006801:Humans; D007645:Keratoderma, Palmoplantar; D009154:Mutation; D010641:Phenotype
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26