Literature DB >> 11115382

DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24.

C C Greene1, P M McMillan, S E Barker, P Kurnool, M I Lomax, M Burmeister, M M Lesperance.   

Abstract

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).

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Mesh：

Year:  2000        PMID： 11115382      PMCID： PMC1234922          DOI： 10.1086/316925

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  24 in total

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  19 in total

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