Nature Genetics
19, 260 - 263 (1998)
doi:10.1038/940
An L-type calcium-channel gene mutated in incomplete X-linked congenital
stationary night blindnessTim M. Strom1, Gerald Nyakatura2, Eckart Apfelstedt-Sylla3, Heide Hellebrand1, Birgit Lorenz4, Bernhard H. F. Weber5, Krisztina Wutz1, Nadja Gutwillinger1, Klaus Rüther3, Bernd Drescher2, Christian Sauer5, Eberhart Zrenner3, Thomas Meitinger1, Andre Rosenthal2
& Alfons Meindl11
Abteilung Medizinische Genetik der Ludwig-Maximilians-Universität
, Goethestr. 29, 80336 München,
Germany. 2
Institut für Molekulare Biotechnologie,
Am Beutenberg 11, 07745 Jena, Germany. 3
Augenklinik der Universität, 72076
Tübingen, Germany. 4
Ophthalmogenetik der Augenklinik der Universität,
93042 Regensburg, Germany. 5
Institut für Humangenetik, Am Hubland,
97074 Würzburg, Germany.
Correspondence should be addressed to Alfons Meindl alfons@pedgen.med.uni-muenchen.deThe 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 
1-subunit gene (CACNA1F) in this region, consisting of 48 exons
encoding 1966 amino acids and showing high homology to L-type calcium channel
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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