Audioprofiling identifies TECTA and GJB2-related deafness segregating in a single extended pedigree.
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.
Meyer
N C
NC
Department of Otolaryngology, Carver College of Medicine, The University of Iowa, Iowa City, IA 52242, USA.
Nishimura
C J
CJ
McMordie
S
S
Smith
R J H
RJ
D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005190:Family; D058851:GPI-Linked Proteins; D005838:Genotype; D034381:Hearing Loss / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D010375:Pedigree
D017630:Connexins; D016326:Extracellular Matrix Proteins; C000607042:GJB2 protein, human; D058851:GPI-Linked Proteins; D008562:Membrane Glycoproteins; C491350:TECTA protein, human; D000072259:Connexin 26