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

Nat Genet. 1998 Jul;19(3):260-3. doi: 10.1038/940.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Calcium Channels / genetics*
  • Calcium Channels, L-Type*
  • DNA Mutational Analysis
  • DNA, Complementary
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Night Blindness / congenital*
  • Night Blindness / genetics*
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Sequence Homology, Amino Acid
  • X Chromosome*


  • CACNA1F protein, human
  • Calcium Channels
  • Calcium Channels, L-Type
  • DNA, Complementary

Associated data

  • GENBANK/AJ006216
  • GENBANK/AJ224874