title: An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
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.
authors.affiliation: Abteilung Medizinische Genetik der Ludwig-Maximilians-Universität, München, Germany.
authors.forename: T M
authors.initials: TM
authors.lastname: Strom
authors.forename: G
authors.initials: G
authors.lastname: Nyakatura
authors.forename: E
authors.initials: E
authors.lastname: Apfelstedt-Sylla
authors.forename: H
authors.initials: H
authors.lastname: Hellebrand
authors.forename: B
authors.initials: B
authors.lastname: Lorenz
authors.forename: B H
authors.initials: BH
authors.lastname: Weber
authors.forename: K
authors.initials: K
authors.lastname: Wutz
authors.forename: N
authors.initials: N
authors.lastname: Gutwillinger
authors.forename: K
authors.initials: K
authors.lastname: Rüther
authors.forename: B
authors.initials: B
authors.lastname: Drescher
authors.forename: C
authors.initials: C
authors.lastname: Sauer
authors.forename: E
authors.initials: E
authors.lastname: Zrenner
authors.forename: T
authors.initials: T
authors.lastname: Meitinger
authors.forename: A
authors.initials: A
authors.lastname: Rosenthal
authors.forename: A
authors.initials: A
authors.lastname: Meindl
mesh_terms: 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
chemical_list: C113330:CACNA1F protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type; D018076:DNA, Complementary