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  • Title: [The study of GJB2 dominant mutaion distribution in Chinese deafness patient and the analysis of phenotype].
    Author: Huang S, Huang B, Yuan Y, Wang G, Dai P.
    Journal: Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2014 Nov; 28(22):1744-7. PubMed ID: 25752103.
    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.
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