Journal article
Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree
Clinical genetics, Vol.72(2), pp.130-137
08/2007
DOI: 10.1111/j.1399-0004.2007.00828.x
PMID: 17661817
Abstract
An audioprofile displays phenotypic data from several audiograms on a single graph that share a common genotype. In this report, we describe the application of audioprofiling to a large family in which a genome-wide screen failed to identify a deafness locus. Analysis of audiograms by audioprofiling suggested that two persons with hearing impairment had a different deafness genotype. On this basis, we reassigned affectation status and identified a p.Cys1837Arg autosomal dominant mutation in alpha-tectorin segregating in all family members except two persons, who segregated autosomal recessive deafness caused by p.Val37Ile and p.Leu90Pro mutations in Connexin 26. One nuclear family in the extended pedigree segregates both dominant and recessive non-syndromic hearing loss.
Details
- Title: Subtitle
- Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree
- Creators
- N C Meyer - Department of Otolaryngology, Carver College of Medicine, The University of Iowa, Iowa City, IA 52242, USAC J NishimuraS McMordieR J H Smith
- Resource Type
- Journal article
- Publication Details
- Clinical genetics, Vol.72(2), pp.130-137
- DOI
- 10.1111/j.1399-0004.2007.00828.x
- PMID
- 17661817
- NLM abbreviation
- Clin Genet
- ISSN
- 0009-9163
- eISSN
- 1399-0004
- Publisher
- Denmark
- Grant note
- DC02842 / NIDCD NIH HHS DC03544 / NIDCD NIH HHS
- Language
- English
- Date published
- 08/2007
- 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
- 9984006321402771
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