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Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment


Santos, Regie Lyn P; Häfner, Franziska M; Huygen, Patrick L M; Linder, Thomas E; Schinzel, Albert; Spillmann, Thomas; Leal, Suzanne M (2006). Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment. Audiology and Neurotology, 11(5):269-275.

Abstract

This article describes the hearing impairment (HI) phenotype which segregates in a large multi-generation Swiss-German family with autosomal dominant nonsyndromic HI. The locus segregating within this pedigree is located on chromosome 4q35-qter and is designated as DFNA24. For this pedigree, audiometric data on 25 hearing-impaired family members are available. It was demonstrated that within this kindred the HI is sensorineural, bilateral, prelingual in onset, and progressive throughout life. Age-related typical audiograms depict steeply down-sloping curves, with moderate high-frequency HI at birth, then steady progression to moderate HI in the low frequencies, severe HI at mid-frequencies and profound HI at high frequencies by age 70. Annual threshold deterioration was approximately 0.5 dB/year at 1-2 kHz after correction for presbycusis.

Abstract

This article describes the hearing impairment (HI) phenotype which segregates in a large multi-generation Swiss-German family with autosomal dominant nonsyndromic HI. The locus segregating within this pedigree is located on chromosome 4q35-qter and is designated as DFNA24. For this pedigree, audiometric data on 25 hearing-impaired family members are available. It was demonstrated that within this kindred the HI is sensorineural, bilateral, prelingual in onset, and progressive throughout life. Age-related typical audiograms depict steeply down-sloping curves, with moderate high-frequency HI at birth, then steady progression to moderate HI in the low frequencies, severe HI at mid-frequencies and profound HI at high frequencies by age 70. Annual threshold deterioration was approximately 0.5 dB/year at 1-2 kHz after correction for presbycusis.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Physiology
Health Sciences > Otorhinolaryngology
Life Sciences > Sensory Systems
Health Sciences > Speech and Hearing
Language:English
Date:2006
Deposited On:25 Jun 2021 09:31
Last Modified:14 Jun 2024 03:34
Publisher:Karger
ISSN:1420-3030
OA Status:Hybrid
Free access at:PubMed ID. An embargo period may apply.
Publisher DOI:https://doi.org/10.1159/000093525
PubMed ID:16717440
  • Content: Published Version
  • Language: English