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

Abstract

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

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

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