A novel missense mutation in a C2 domain ofOTOF results in autosomal recessive auditory neuropathy

作者： Mustafa Tekin , Duygu Akcayoz , Armagan Incesulu

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摘要: Screening of 12 Turkish families with apparently autosomal recessive nonsyndromic sensorineural deafness without GJB2 and mtDNA m.1555A > G mutations for 11 previously mapped loci showed a family in which hearing loss cosegregated the DFNB9 (OTOF) locus. Three affected children were later found to carry novel homozygous c.3032T > C (p.Leu1011Pro) mutation OTOF gene. Both parents heterozygous mutation. p.Leu1011Pro alters conserved leucine residue C2D domain otoferlin. Pure tone audiometry severe profound (with U-shape audiograms) children, normal parents. Otoacoustic emissions auditory brainstem response (ABR) suggested presence neuropathy individuals. © 2005 Wiley-Liss, Inc.

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A novel missense mutation in a C2 domain ofOTOF results in autosomal recessive auditory neuropathy

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A novel missense mutation in a C2 domain ofOTOF results in autosomal recessive auditory neuropathy

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