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

Tekin M., Akcayoz D., Incesulu A.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, sa.1, ss.6-10, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: Sayı: 1
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1002/ajmg.a.30907
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.6-10
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

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.Leu.1011Pro) 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. (c) 2005 Wiley-Liss, Inc.