[Analysis of genetic mutation in patients with nonsyndromic hearing loss received cochlear implant].

Objective: To investigate the prevalence of mutations of the gap junction protein (GJB) 2 and mitochondria 12SrRNA in patients with nonsyndromic hearing loss who received cochlear implant.

Methods: Genomic DNA was extracted from the peripheral blood samples obtained from 100 Chinese patients who had received cochlear implantation, 96 with prelingual hearing loss and 4 with postlingual hearing loss, all very severe. Sixteen of the 100 patients had the history of application of aminoglycosides, among which 12 were with prelingual hearing loss and 4 with postlingual hearing loss. PCR was performed and the products were sequenced by automated DNA sequencer.

Results: GJB2 mutations were detected in 34 of the 100 cochlear implant recipients (34%), all with prelingual hearing loss, among which 27 (27%) had 235delC mutation. Among the 16 patients who had used aminoglycosides, two had the mutation A1555G, and one carried the mitochondrial genetic mutation delT961Cn.

Conclusion: Mutation of GJB2 gene is the major cause of deafness in cochlear implant recipients, with a high frequency of 235delC mutation. Mitochondria genetic mutation A1555G is the common form of mutation in postlingual deafness with a history of aminoglycoside injection.