Nat Genet. 1998 Jul;19(3):260-3.

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

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

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Abteilung Medizinische Genetik der Ludwig-Maximilians-Universität, München, Germany.

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.

PMID:: 9662399; [PubMed - indexed for MEDLINE]

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Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. [Nat Genet. 1998]
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. Nat Genet. 1998 Jul; 19(3):264-7.
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina. [Eur J Hum Genet. 2002]
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, de la Chapelle A, Weber BH, Wissinger B, et al. Eur J Hum Genet. 2002 Aug; 10(8):449-56.
Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness. [Invest Ophthalmol Vis Sci. 2001]
Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.
Nakamura M, Ito S, Terasaki H, Miyake Y. Invest Ophthalmol Vis Sci. 2001 Jun; 42(7):1610-6.
Review [Establishment of the concept of new clinical entities--complete and incomplete form of congenital stationary night blindness]. [Nihon Ganka Gakkai Zasshi. 2002]
Review [Establishment of the concept of new clinical entities--complete and incomplete form of congenital stationary night blindness].
Miyake Y. Nihon Ganka Gakkai Zasshi. 2002 Dec; 106(12):737-55; discussion 756.
Review The Ca(v)1.4 calcium channel: more than meets the eye. [Channels (Austin). 2007]
Review The Ca(v)1.4 calcium channel: more than meets the eye.
Doering CJ, Peloquin JB, McRory JE. Channels (Austin). 2007 Jan-Feb; 1(1):3-10. Epub 2007 Jan 1.

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Calcium channel-dependent molecular maturation of photoreceptor synapses. [PLoS One. 2013]
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Zabouri N, Haverkamp S. PLoS One. 2013; 8(5):e63853. Epub 2013 May 13.
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Vincent A, Wright T, Day MA, Westall CA, Héon E. Mol Vis. 2011; 17:3262-70. Epub 2011 Dec 15.

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