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Updated: Aug 3, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24
C C Greene1, P M McMillan, S E Barker
1Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, Ann Arbor, MI, 48109, USA.
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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