RGD Reference Report - A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy. - Rat Genome Database

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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.
RGD ID: 9479157
Pubmed: PMID:16097006   (View Abstract at PubMed)
DOI: DOI:10.1002/ajmg.a.30907   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autosomal recessive nonsyndromic deafness 9  IAGP 9479157DNA:missense mutation:cds:p.L1011P (human)RGD 
autosomal recessive nonsyndromic deafness 9  ISOOTOF (Homo sapiens)9479157; 9479157DNA:missense mutation:cds:p.L1011P (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Prelingual sensorineural hearing impairment  IAGP 9479157DNA:missense mutation:cds:p.L1011PRGD 
Objects Annotated

Genes (Rattus norvegicus)
Otof  (otoferlin)

Genes (Mus musculus)
Otof  (otoferlin)

Genes (Homo sapiens)
OTOF  (otoferlin)


Additional Information