DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.
Using linkage analysis, we identified a novel dominant locus, DFNA25, for delayed-onset, progressive, high-frequency, nonsyndromic sensorineural hearing loss in a large, multigenerational United States family of Czech descent. On the basis of recombinations in affected individuals, we determined that DFNA25 is located in a 20-cM region of chromosome 12q21-24 between D12S327 (centromeric) and D12S84 (telomeric), with a maximum two-point LOD score of 6.82, at recombination fraction.041, for D12S1030. Candidate genes in this region include ATP2A2, ATP2B1, UBE3B, and VR-OAC. DFNA25 may be the human ortholog of bronx waltzer (bv).
Greene
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Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, MI, 48109, USA.
McMillan
P M
PM
Barker
S E
SE
Kurnool
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P
Lomax
M I
MI
Burmeister
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M
Lesperance
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D000328:Adult; D017668:Age of Onset; D002675:Child, Preschool; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D003604:Czechoslovakia / Q000208:ethnology; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008126:Lod Score; D008214:Lymphocytes; D008297:Male; D008957:Models, Genetic; D010375:Pedigree; D019683:Penetrance; D011304:Presbycusis / Q000235:genetics; D013577:Syndrome; D014481:United States