Human Genetics

, Volume 108, Issue 2, pp 91–97

A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants

Authors

  • Kym Boycott
    • Department of Medical Genetics, University of Calgary, 3330 Hospital Dr. N.W., HMRB 257, Calgary, AB, T2N 4N1, Canada
  • Tracy Maybaum
    • Department of Medical Genetics, University of Calgary, 3330 Hospital Dr. N.W., HMRB 257, Calgary, AB, T2N 4N1, Canada
  • Margaret Naylor
    • Department of Medical Genetics, University of Calgary, 3330 Hospital Dr. N.W., HMRB 257, Calgary, AB, T2N 4N1, Canada
  • Richard Weleber
    • Medical Genetics, Oregon Health Sciences University, Portland, Oregon, USA
  • Johane Robitaille
    • Department of Ophthalmology, Dalhousie University, Halifax, Nova Scotia, Canada
  • Yozo Miyake
    • Department of Ophthalmology, Nagoya University School of Medicine, Nagoya, Japan
  • Arthur Bergen
    • The Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
  • Mary Pierpont
    • Department of Pediatric Genetics and Metabolism, University of Minnesota, Minneapolis, Minnesota, USA
  • William Pearce
    • Department of Medical Genetics, University of Calgary, 3330 Hospital Dr. N.W., HMRB 257, Calgary, AB, T2N 4N1, Canada
  • N. Bech-Hansen
    • Department of Medical Genetics, University of Calgary, 3330 Hospital Dr. N.W., HMRB 257, Calgary, AB, T2N 4N1, Canada
Original Investigation

DOI: 10.1007/s004390100461

Cite this article as:
Boycott, K., Maybaum, T., Naylor, M. et al. Hum Genet (2001) 108: 91. doi:10.1007/s004390100461

Abstract.

Incomplete X-linked congenital stationary night blindness (CSNB) is a recessive, non-progressive eye disorder characterized by abnormal electroretinogram and psychophysical testing and can include impaired night vision, decreased visual acuity, myopia, nystagmus, and strabismus. Including the 20 families previously reported (Bech-Hansen et al. 1998b), we have now analyzed patients from a total of 36 families with incomplete CSNB and identified 20 different mutations in the calcium channel gene CACNA1F. Three of the mutations account for incomplete CSNB in two or more families, and a founder effect is clearly demonstrable for one of these mutations. Of the 20 mutations identified, 14 (70%) are predicted to cause premature protein truncation and six (30%) to cause amino acid substitutions or deletions at conserved positions in the α1F protein. In characterizing transcripts of CACNA1F we have identified several splice variants and defined a prototypical sequence based on the location of mutations in splice variants and comparison with the mouse orthologue, Cacna1f.

Copyright information

© Springer-Verlag 2001