Article
A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation.
Audiology & neuro-otology - 1 Jan 2000
Bischoff Anne M L C, Luijendijk Mirjam W J, Huygen Patrick L M, van Duijnhoven Gerard, De Leenheer Els M R, Oudesluijs Grétel G, Van Laer Lut, Cremers Frans P M, Cremers Cor W R J, Kremer Hannie
Abstract excerpt
A novel DFNA5 mutation was found in a Dutch family, of which 37 members were examined. A nucleotide substitution was identified in the splice acceptor site of intron 7, leading to skipping of exon 8 in part of the transcripts. The mutation was found in 18 individuals. Sensorineural hearing impairment was non-syndromic and symmetric. In early life, presumably congenitally, hearing impairment amounted to 30 dB in...
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