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Background  Auditory neuropathy spectrum disorder (ANSD) is a unique form of hearing loss that involves absence or severe abnormality of auditory brainstem response (ABR), but also the presence of otoacoustic emissions (OAEs). However, with age, the OAEs disappear, making it difficult to distinguish this condition from other nonsyndromic hearing loss. Therefore, the frequency of ANSD may be underestimated. The aim of this study was to determine what portion of nonsyndromic hearing loss is caused by mutations of  OTOF , the major responsible gene for nonsyndromic ANSD.    Methods  We screened 160 unrelated Japanese with severe to profound recessive nonsyndromic hearing loss (ARNSHL) without  GJB2  or  SLC26A4  mutations, and 192 controls with normal hearing.    Results  We identified five pathogenic  OTOF  mutations (p.D398E, p.Y474X, p.N727S, p.R1856Q and p.R1939Q) and six novel, possibly pathogenic variants (p.D450E, p.W717X, p.S1368X, p.R1583H, p.V1778I, and p.E1803A).    Conclusions  The present study showed that  OTOF  mutations accounted for 3.2–7.3% of severe to profound ARNSHL patients in Japan.  OTOF  mutations are thus a frequent cause in the Japanese deafness population and mutation screening should be considered regardless of the presence/absence of OAEs.

OTOF mutation screening in Japanese severe to profound recessive hearing loss patients