期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 143A, 期 14, 页码 1592-1598出版社
WILEY
DOI: 10.1002/ajmg.a.31793
关键词
deafness; cardiomyopathy; ear; EYA4; hearing; hearing loss
资金
- Intramural NIH HHS Funding Source: Medline
Dominant, truncating mutations of eyes absent 4 (EYA4) on chromosome 6q23 can cause either nonsyndromic hearing loss DFNA10 or hearing loss with dilated cardiomyopathy (DCM). It has been proposed that truncations of the C-terminal Eya domain cause DFNA10 whereas upstream truncations of the N-terminal variable region cause hearing loss with DCM. Here we report an extended family cosegregating autosomal dominant, postlingual-onset, progressive, sensorineural hearing loss (SNHL) with a novel frame-shift mutation, 1490insAA, of EYA4. The 1490insAA allele is predicted to encode a truncated protein with an intact N-terminal variable region, but lacking the entire C-terminal Eya domain. Clinical studies including electrocardiography, echocardiography, and magnetic resonance imaging (MRI) of the heart in nine affected family members revealed no DCM or associated abnormalities and confirmed their nonsyndromic phenotype. These are the first definitive cardiac evaluations of DFNA10 hearing loss to support a correlation of EYA4 mutation position with the presence or absence of DCM. These results will facilitate the counseling of patients with these phenotypes and EYA4 mutations. Published 2007 Wiley-Liss, Inc.(dagger)
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