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- Title
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
- Authors
Strom, Tim M.; Nyakatura, Gerald; Apfelstedt-Sylla, Eckart; Hellebrand, Heide; Lorenz, Birgit; Weber, Bernhard H. F.; Wutz, Krisztina; Gutwillinger, Nadja; Rüther, Klaus; Drescher, Bernd; Sauer, Christian; Zrenner, Eberhart; Meitinger, Thomas; Rosenthal, Andre; Meindl, Alfons
- 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 α1-subunit gene (CACNA1F) in this region, consisting of 48 exons encoding 1966 amino acids and showing high homology to L-type calcium channel α1?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.
- Subjects
GENETICS of blindness; CALCIUM channels
- Publication
Nature Genetics, 1998, Vol 19, Issue 3, p260
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/940