Nonsyndromic hearing impairment is associated with a mutation in DFNA5.

Van Laer, Lut, Huizing, Egbert H, Verstreken, Margriet, van Zuijlen, Diederick, Wauters, Jan G, Bossuyt, Paul J, Van de Heyning, Paul, McGuirt, Wyman T, Smith, Richard J H, Willems, Patrick J, Legan, P Kevin, Richardson, Guy P and Van Camp, Guy (1998) Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nature Genetics, 20 (2). pp. 194-7.

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Nonsyndromic hearing impairment is one of the most heterogeneous hereditary conditions, with more than 40 loci mapped on the human genome, however, only a limited number of genes implicated in hearing loss have been identified. We previously reported linkage to chromosome 7p15 for autosomal dominant hearing impairment segregating in an extended Dutch family (DFNA5). Here, we report a further refinement of the DFNA5 candidate region and the isolation of a gene from this region that is expressed in the cochlea. In intron 7 of this gene, we identified an insertion/deletion mutation that does not affect intron-exon boundaries, but deletes five G-triplets at the 3' end of the intron. The mutation co-segregated with deafness in the family and causes skipping of exon 8, resulting in premature termination of the open reading frame. As no physiological function could be assigned, the gene was designated DFNA5.

Item Type: Article
Schools and Departments: School of Life Sciences > Neuroscience
Depositing User: EPrints Services
Date Deposited: 06 Feb 2012 18:30
Last Modified: 23 Mar 2012 11:11
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