Journal article
Genetic heterogeneity of deafness phenotypes linked to DFNA4
American journal of medical genetics. Part A, Vol.139(1), pp.9-12
11/15/2005
DOI: 10.1002/ajmg.a.30989
PMID: 16222661
Abstract
Mutations in the heavy chain of the class II nonmuscle myosin, MYH14, cause autosomal dominant hearing loss in families linked to the DFNA4 locus. Consistent with this discovery, we identified an S120L mutation in MYH14 in a large German family segregating deafness that links to DFNA4. However, complete screening of the American family that originally defined the DFNA4 locus revealed no mutations in this gene. Furthermore, haplotyping of a single nucleotide polymorphism (SNP) 5' to MYH14 excludes this gene from the critical region in this family. Our results imply that mutations in another gene result in deafness at the DFNA4 locus. The newly defined candidate region encompasses a region of approximately 19 cM. Several candidate genes have been screened for disease-causing mutations.
Details
- Title: Subtitle
- Genetic heterogeneity of deafness phenotypes linked to DFNA4
- Creators
- Tao Yang - Department of Otolaryngology-Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USAMarkus PfisterNikolaus BlinHans P ZennerCarsten M PuschRichard J H Smith
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.139(1), pp.9-12
- DOI
- 10.1002/ajmg.a.30989
- PMID
- 16222661
- NLM abbreviation
- Am J Med Genet A
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Publisher
- United States
- Grant note
- DC03544 / NIDCD NIH HHS
- Language
- English
- Date published
- 11/15/2005
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006433602771
Metrics
25 Record Views