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Audioprofiling identifies TECTA and GJB2 ‐related deafness segregating in a single extended pedigree
Author(s) -
Meyer NC,
Nishimura CJ,
McMordie S,
Smith RJH
Publication year - 2007
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2007.00828.x
Subject(s) - audiogram , genetics , hearing loss , genotype , biology , locus (genetics) , phenotype , audiology , gene , medicine
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 α‐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.