Background: The GJB2 gene, mapping to chromosome 13q12, encodes a gap junction protein, connexin 26, and is responsible for certain forms of congenital deafness, such as DFNB1 and DFNA3. Mutations of this gene are responsible for about one half of severe autosomal recessive non-syndromic deafness. Methods: To determine whether GJB2 mutations are major causes of deafness in Chinese cochlear implant recipients, we enrolled 115 cochlear implant recipients for mutation screening. Results: The results showed that 36.5% (42/115) of all cochlear implant recipients and 41% (41/100) of non-syndromic deafness patients exhibit GJB2 mutations; only 1 inner ear malformation patient was detected with GJB2 mutations. The present study found 11 different variations in the GJB2 gene. Conclusion: The 235delC mutation was the most prevalent mutation, found in 18.3% (42/230 alleles) of all cochlear implant recipients and 21.0% (42/200 alleles) of the non-syndromic deafness group. Only 0.6% of GJB2 mutations were detected in the inner ear malformation group. The novel 187G→T mutations are likely to be pathological mutations.

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