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 Citations (Scopus)

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

Fingerprint

Missense Mutation
Mutation
Parents
Pure-Tone Audiometry
Brain Stem Auditory Evoked Potentials
Sensorineural Hearing Loss
Deafness
Mitochondrial DNA
Hearing Loss
Leucine
Hearing
Genes
C2 Domains
Auditory neuropathy

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy. / Tekin, Mustafa; Akcayoz, Duygu; Incesulu, Armagan.

In: American Journal of Medical Genetics, Vol. 138 A, No. 1, 15.09.2005, p. 6-10.

Research output: Contribution to journalArticle

@article{eca6b28ab6d442c6816d18618a8c38d2,
title = "A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy",
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.",
keywords = "Auditory neuropathy, Autosomal recessive, Deafness, Hearing loss, OTOF",
author = "Mustafa Tekin and Duygu Akcayoz and Armagan Incesulu",
year = "2005",
month = "9",
day = "15",
doi = "10.1002/ajmg.a.30907",
language = "English",
volume = "138 A",
pages = "6--10",
journal = "American Journal of Medical Genetics, Part C: Seminars in Medical Genetics",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy

AU - Tekin, Mustafa

AU - Akcayoz, Duygu

AU - Incesulu, Armagan

PY - 2005/9/15

Y1 - 2005/9/15

N2 - 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.

AB - 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.

KW - Auditory neuropathy

KW - Autosomal recessive

KW - Deafness

KW - Hearing loss

KW - OTOF

UR - http://www.scopus.com/inward/record.url?scp=24344458436&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=24344458436&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.30907

DO - 10.1002/ajmg.a.30907

M3 - Article

C2 - 16097006

AN - SCOPUS:24344458436

VL - 138 A

SP - 6

EP - 10

JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

SN - 1552-4825

IS - 1

ER -