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Background  Mutations in the GJB2 gene are the most common cause of nonsyndromic recessive hearing loss in China. In about 6% of Chinese patients with severe to profound sensorineural hearing impairment, only monoallelic  GJB2  mutations known to be either recessive or of unclear pathogenicity have been identified. This paper reports the prevalence of the  GJB2  IVS1+1G>A mutation in a population of Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of  GJB2 .    Methods  Two hundred and twelve patients, screened from 7133 cases of nonsyndromic hearing loss in China, with monoallelic mutation (mainly frameshift and nonsense mutation) in the coding region of  GJB2  were examined for the  GJB2  IVS1+1G>A mutation and mutations in the promoter region of this gene. Two hundred and sixty-two nonsyndromic hearing loss patients without  GJB2  mutation and 105 controls with normal hearing were also tested for the  GJB2  IVS1+1G>A mutation by sequencing.    Results  Four patients with monoallelic mutation in the coding region of  GJB2  were found carrying the  GJB2  IVS1+1G>A mutation on the opposite allele. One patient with the  GJB2  c.235delC mutation carried one variant, -3175 C>T, in exon 1 of  GJB2 . Neither  GJB2  IVS1+1G>A mutation nor any variant in exon 1 of  GJB2  was found in the 262 nonsyndromic hearing loss patients without  GJB2  mutation or in the 105 normal hearing controls.    Conclusion  Testing for the  GJB2  IVS 1+1 G to A mutation explained deafness in 1.89% of Chinese  GJB2  monoallelic patients, and it should be included in routine testing of patients with  GJB2  monoallelic pathogenic mutation.

Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2