Title: An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

Authors: T M Strom, G Nyakatura, E Apfelstedt-Sylla, H Hellebrand, B Lorenz, B H Weber, K Wutz, N Gutwillinger, K Rüther, B Drescher, C Sauer, E Zrenner, T Meitinger, A Rosenthal, A Meindl

Journal, date & volume: Nat. Genet., 1998 Jul , 19, 260-3

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/9662399

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.