An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness
TM Strom, G Nyakatura, E Apfelstedt-Sylla… - Nature …, 1998 - nature.com
Nature genetics, 1998•nature.com
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 α 1-subunit gene (CACNA1F) in this region, consisting of
48 exons encoding 1966 amino acids and showing high homology to L-type calcium
channel α 1–subunits. Mutation analysis in 13 families with CSNB2 revealed nine different
mutations in 10 families, including three nonsense and one frameshift mutation. These data …
maps to a 1.1-Mb region in Xp11. 23 between markers DXS722 and DXS255. We identified
a retina-specific calcium channel α 1-subunit gene (CACNA1F) in this region, consisting of
48 exons encoding 1966 amino acids and showing high homology to L-type calcium
channel α 1–subunits. Mutation analysis in 13 families with CSNB2 revealed nine different
mutations in 10 families, including three nonsense and one frameshift mutation. These data …
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 α 1-subunit gene (CACNA1F) in this region, consisting of 48 exons encoding 1966 amino acids and showing high homology to L-type calcium channel α 1–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.
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