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

Authors: Tekin, M  Akcayoz, D  Incesulu, A 
Citation: Tekin M, etal., Am J Med Genet A. 2005 Sep 15;138(1):6-10.
Pubmed: (View Article at PubMed) PMID:16097006
DOI: Full-text: DOI:10.1002/ajmg.a.30907

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.


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CRRD Object Information
CRRD ID: 9479157
Created: 2014-08-27
Species: All species
Last Modified: 2014-08-27
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.