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- Title
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
- Authors
Strom, T M; Nyakatura, G; Apfelstedt-Sylla, E; Hellebrand, H; Lorenz, B; Weber, B H; Wutz, K; Gutwillinger, N; Rüther, K; Drescher, B; Sauer, C; Zrenner, E; Meitinger, T; Rosenthal, A; Meindl, A
- Abstract
The locus for the incomplete form of X-linked congenital stationary night blindness (CSNB2) maps to a 1.1-Mb region in Xp11.23 between markers DXS722 and DXS255. We identified a retina-specific calcium channel alpha1-subunit gene (CACNA1F) in this region, consisting of 48 exons encoding 1966 amino acids and showing high homology to L-type calcium channel alpha1-subunits. Mutation analysis in 13 families with CSNB2 revealed nine different mutations in 10 families, including three nonsense and one frameshift mutation. These data indicate that aberrations in a voltage-gated calcium channel, presumably causing a decrease in neurotransmitter release from photoreceptor presynaptic terminals, are a frequent cause of CSNB2.
- Publication
Nature genetics, 1998, Vol 19, Issue 3, p260
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/940