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Radboud Repository
Article . 2001
Data sources: Radboud Repository
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Clinical Otolaryngology
Article . 2001 . Peer-reviewed
License: Wiley TDM
Data sources: Crossref
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A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13

Authors: Ensink, R.J.; Huygen, P.; Snoeckx, Rik; Caethoven, G.; Van Camp, Guy; Cremers, C.W.R.J.;

A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13

Abstract

We present a Dutch family with autosomal dominantly inherited mid-frequency and high-frequency sensorineural hearing impairment. Genetic linkage analysis in this family indicated linkage to DFNA13 with logarithm of the odds ratio (LOD) scores > +4. The majority of the affected persons presented with hearing impairment from the age of 30 years onwards, although hearing impairment was noted at about 10 years of age in two affected persons. Three individuals represent phenocopies. After correction for presbyacusis, hearing impairment was most marked at 1-2 kHz and showed an annual progression of 0.8 dB per year. By the age of 60 years, the configuration of the audiogram was flat, reflecting the combined effects of the inherited progressive hearing loss and presbyacusis. Vestibular function was intact. Recently, mutations in the COL11A2 gene were found in two other families with non-syndromic hearing impairment linked to DFNA13. Further mutation analysis of the COL11A2 gene will show whether this family also contains a COL11A2 mutation.

Related Organizations
Keywords

Male, Genetic Linkage, Hearing Loss, Sensorineural, Pedigree, Cross-Sectional Studies, Hearing and Communication Disorders, Mutation, Disease Progression, Gehoor en communicatie, Audiometry, Pure-Tone, Humans, Family, Female, Genes, Dominant, Netherlands

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    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
8
Average
Average
Average