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Article

Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.

American journal of medical genetics. Part A - 1 Mar 2003

Petek Erwin, Windpassinger Christian, Mach Monika, Rauter Ludwig, Scherer Stephen W, Wagner Klaus, Kroisel Peter M

Abstract excerpt

The DFNA25 locus for autosomal dominant nonsyndromic hereditary hearing loss has been mapped to 12q21-q24 by linkage analysis. A de novo deletion in a six-year-old boy with congenital hearing loss as well as mental and motor retardation now provides independent confirmation of this genetic localization and narrows the critical interval to 13 cM in the 12q22-q24.1 region. Mapping of the deletion was performed...

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PMID: 12567408
DOI: 10.1002/ajmg.a.10155

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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