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Title: DFNA5: hearing impairment exon instead of hearing impairment gene?
Authors: Van Laer, L ×
Vrijens, K
Thys, S
Van Tendeloo, VFI
Smith, RJH
Van Bockstaele, DR
Timmermans, JP
Van Camp, Guy #
Issue Date: Jun-2004
Publisher: BMJ Publishing Group
Series Title: Journal of Medical Genetics vol:41 issue:6 pages:401-406
Abstract: Background: Three mutations in the DFNA5 gene have been described in three families with autosomal dominant non-syndromic hearing impairment. Although these mutations are different at the genomic DNA level, they all lead to skipping of exon 8 at the mRNA level. We hypothesise that hearing impairment associated with DFNA5 is caused by a highly unusual mechanism, in which skipping of one specific exon leads to disease that is not caused by other mutations in this gene. We hypothesise that this represents a very specific "gain of function'' mutation, with the truncated protein exerting a deleterious new function.
ISSN: 0022-2593
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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