Strom, Tim M. and Nyakatura, Gerald and Apfelstedt-Sylla, Eckart and Hellebrand, Heide and Lorenz, Birgit and Weber, Bernhard H. F. and Wutz, Krisztina and Gutwillinger, Nadja and Rüther, Klaus and Drescher, Bernd and Sauer, Christian and Zrenner, Eberhart and Meitinger, Thomas and Rosenthal, Andre and Meindl, Alfons (1998) An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. NATURE GENETICS, 19 (3). pp. 260-263. ISSN 1061-4036, 1546-1718
Full text not available from this repository. (Request a copy)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 alpha(1)-subunit gene (CACNA1F) in this region, consisting of 48 exons encoding 1966 amino acids and showing high homology to L-type calcium channel alpha(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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | BETA-SUBUNIT; REGION; RP3 |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 24 Feb 2023 06:07 |
| Last Modified: | 24 Feb 2023 06:07 |
| URI: | https://pred.uni-regensburg.de/id/eprint/49707 |
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