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

Mustafa Tekin, Duygu Akcayoz, Armagan Incesulu

Research output: Contribution to journalArticle

42 Scopus citations


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

Original languageEnglish
Pages (from-to)6-10
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume138 A
Issue number1
StatePublished - Sep 15 2005
Externally publishedYes



  • Auditory neuropathy
  • Autosomal recessive
  • Deafness
  • Hearing loss
  • OTOF

ASJC Scopus subject areas

  • Genetics(clinical)

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