An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
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.
Strom
T M
TM
Abteilung Medizinische Genetik der Ludwig-Maximilians-Universität, München, Germany.
Nyakatura
G
G
Apfelstedt-Sylla
E
E
Hellebrand
H
H
Lorenz
B
B
Weber
B H
BH
Wutz
K
K
Gutwillinger
N
N
Rüther
K
K
Drescher
B
B
Sauer
C
C
Zrenner
E
E
Meitinger
T
T
Rosenthal
A
A
Meindl
A
A
D000595:Amino Acid Sequence; D001483:Base Sequence; D015220:Calcium Channels / Q000235:genetics*; D020746:Calcium Channels, L-Type; D004252:DNA Mutational Analysis; D018076:DNA, Complementary; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009755:Night Blindness / Q000151:congenital* / Q000235:genetics*; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D017386:Sequence Homology, Amino Acid; D014960:X Chromosome
C113330:CACNA1F protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type; D018076:DNA, Complementary