Linked Life Data

11559344

Source:http://linkedlifedata.com/resource/pubmed/id/11559344

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2001-9-17
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0307-7772
pubmed:author
pubmed:issnType
Print
pubmed:volume
26
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
310-6
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2001
pubmed:articleTitle
A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13.
pubmed:affiliation
Department of Otorhinolaryngology, University of Nijmegen, The Netherlands. r.ensink@kno.azn.nl
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't