Elucidation of genetic backgrounds of auditory neuropathy specific to Japanese population

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Genetic analysis of unrelated 23 Japanese patients with auditory neuropathy revealed that mutations of OTOF were identified in 16 patients and 13 of them had p. R1939Q missense mutation. Other than p. R1939Q mutation, each mutation was identified in only one patient. Haplotype analysis of p. R1939Q missense mutation of OTOF using adjacent SNPs demonstrated a founder effect for this mutation. These results first revealed genetic backgrounds of auditory neuropathy specific to Japanese.