[Sequence analysis of OTOF gene in a Chinese pedigree with autosomal dominant auditory neuropathy]

To investigate if the OTOF gene contributes to the non-syndromic hearing loss of a Chinese pedigree with dominantly inherited auditory neuropathy (AN).

The subjects included were 9 live individuals in an autosomal dominant AN pedigree, 3 sporadic AN patients and 3 normal-hearing controls. Genomic DNA was isolated from the peripheral leukocytes of the subjects using the Pure gene DNA Isolation Kits. Firstly, the whole coding sequence of OTOF gene of one family patient were PCR amplified using specific primers. Each fragment was purified and subsequently analyzed by direct sequencing in an Applied Biosystems 3 730 automated DNA sequencer. The resultant sequence data were compared with the standard sequence to identify deafness-associated mutations. Other DNA samples were then screened for these mutations by PCR amplification and sequence analysis.

PCR amplifications were successfully conducted in all the subjects. Comparison of the resultant OTOF sequence in one family patient with the standard sequence identified 10 nucleotide variants which do not lead to amino acid change. These mutations were also detectable in other family individuals, 3 sporadic AN patients and 3 normal-hearing controls.

The OTOF does not seem to contribute to the pathogenesis of this Chinese AN family, which suggest new gene(s) involvement.