Source:http://linkedlifedata.com/resource/pubmed/id/10784363
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
2000-5-19
|
| pubmed:abstractText |
We studied a Dutch family with DFNA2-linked progressive sensorineural hearing impairment (SNHI). Recent audiograms were obtained from 18 of the affected persons (age 7-81 years) and were used in a gene-linkage analysis. Linear regression analysis of the audiograms, using binaural mean thresholds, disclosed on average a descending slope of approximately 10 dB/octave at any age and an annual threshold increase at any frequency of about 0.7 dB/year. There may have been substantial congenital impairment at higher frequencies, but longitudinal analysis of hearing impairment in the youngest case, who was followed from age 5 years, suggested that the most significant changes in hearing may have occurred in the first two decades of life. Linkage analysis was carried out with special attention to the DFNA2 region because hearing trends were very similar to families previously linked to DFNA2. Linkage to DFNA2 was established with maximum lod scores of 4.7 and 3.2 for the flanking markers of the DFNA2 region (D1S432;MYCL1).
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
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| pubmed:issn |
0937-4477
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
257
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
62-7
|
| pubmed:dateRevised |
2010-11-18
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| pubmed:meshHeading |
pubmed-meshheading:10784363-Adolescent,
pubmed-meshheading:10784363-Adult,
pubmed-meshheading:10784363-Aged,
pubmed-meshheading:10784363-Aged, 80 and over,
pubmed-meshheading:10784363-Audiometry,
pubmed-meshheading:10784363-Child,
pubmed-meshheading:10784363-Chromosome Aberrations,
pubmed-meshheading:10784363-Chromosome Disorders,
pubmed-meshheading:10784363-DNA,
pubmed-meshheading:10784363-Female,
pubmed-meshheading:10784363-Genes, Dominant,
pubmed-meshheading:10784363-Genetic Linkage,
pubmed-meshheading:10784363-Hearing Loss, Sensorineural,
pubmed-meshheading:10784363-Humans,
pubmed-meshheading:10784363-Linear Models,
pubmed-meshheading:10784363-Male,
pubmed-meshheading:10784363-Middle Aged,
pubmed-meshheading:10784363-Netherlands,
pubmed-meshheading:10784363-Pedigree,
pubmed-meshheading:10784363-Phenotype
|
| pubmed:year |
2000
|
| pubmed:articleTitle |
A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region.
|
| pubmed:affiliation |
Department of Otorhinolaryngology and Head Neck Surgery, University Hospital, Nijmegen, The Netherlands. r.ensink@kno.azn.nl
|
| pubmed:publicationType |
Journal Article,
Case Reports
|