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rdf:type |
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lifeskim:mentions |
umls-concept:C0024779,
umls-concept:C0205314,
umls-concept:C0241315,
umls-concept:C0443147,
umls-concept:C0598429,
umls-concept:C0679622,
umls-concept:C1384666,
umls-concept:C1520585,
umls-concept:C1556085,
umls-concept:C1708726,
umls-concept:C1854594,
umls-concept:C2677304,
umls-concept:C2827437
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pubmed:issue |
6
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pubmed:dateCreated |
2001-1-26
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pubmed:abstractText |
DFNA23, a novel locus for autosomal dominant nonsyndromic hearing loss, was identified in a Swiss German kindred. DNA samples were obtained from 22 family members in three generations: 10 with hearing impairment caused by the DFNA23 locus, 8 unaffected offspring, and 4 spouses of hearing-impaired pedigree members. In this kindred, the hearing-impaired family members have prelingual bilateral symmetrical hearing loss. All audiograms from hearing-impaired individuals displayed sloping curves, with hearing ability ranging from normal hearing to mild hearing loss in low frequencies, normal hearing to profound hearing loss in mid frequencies, and moderate to profound hearing loss in high frequencies. A conductive component existed for 50% of the hearing-impaired family members. The majority of the hearing-impaired family members did not display progression of hearing loss. The DFNA23 locus maps to 14q21-q22. Linkage analysis was carried out under a fully penetrant autosomal dominant mode of inheritance with no phenocopies. A maximum multipoint LOD score of 5.1 occurred at Marker D14S290. The 3.0-LOD unit support interval is 9.4 cM and ranged from marker D14S980 to marker D14S1046.
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pubmed:grant |
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/10777717-10497222,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10777717-3344216,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10777717-7762577,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10777717-8039706,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10777717-8260618,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10777717-8317490,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10777717-8651310,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10777717-9012420,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10777717-9106521,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10777717-9585227,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10777717-9718341,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10777717-9733643
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
66
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1984-8
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:10777717-Adult,
pubmed-meshheading:10777717-Age of Onset,
pubmed-meshheading:10777717-Auditory Threshold,
pubmed-meshheading:10777717-Child,
pubmed-meshheading:10777717-Chromosome Mapping,
pubmed-meshheading:10777717-Chromosomes, Human, Pair 14,
pubmed-meshheading:10777717-Female,
pubmed-meshheading:10777717-Genes, Dominant,
pubmed-meshheading:10777717-Genetic Markers,
pubmed-meshheading:10777717-Germany,
pubmed-meshheading:10777717-Hearing Loss, Bilateral,
pubmed-meshheading:10777717-Humans,
pubmed-meshheading:10777717-Infant, Newborn,
pubmed-meshheading:10777717-Lod Score,
pubmed-meshheading:10777717-Male,
pubmed-meshheading:10777717-Models, Genetic,
pubmed-meshheading:10777717-Pedigree,
pubmed-meshheading:10777717-Penetrance,
pubmed-meshheading:10777717-Switzerland
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pubmed:year |
2000
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pubmed:articleTitle |
A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred.
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pubmed:affiliation |
Laboratory of Statistical Genetics, The Rockefeller University, New York, NY 10021, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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