Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness

Nat Genet. 1994 May;7(1):64-8. doi: 10.1038/ng0594-64.


The locus for autosomal dominant congenital stationary night blindness (adCSNB) has recently been assigned to distal chromosome 4p by linkage analysis in a large Danish family. Within the candidate gene encoding the beta-subunit of rod photoreceptor cGMP-specific phosphodiesterase (beta PDE), we have identified a heterozygous C to A transversion in exon 4, predicting a His258Asp change in the polypeptide. We found a perfect cosegregation (Zmax = 22.6 at theta = 0.00) of this mutation with the disease phenotype suggesting that this missense mutation is responsible for the disease in this pedigree. Homozygous nonsense mutations in the beta PDE gene have been found recently in patients with autosomal recessive retinitis pigmentosa, a common hereditary photoreceptor dystrophy.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3',5'-Cyclic-GMP Phosphodiesterases / deficiency
  • 3',5'-Cyclic-GMP Phosphodiesterases / genetics*
  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Chromosomes, Human, Pair 4
  • Denmark
  • Female
  • Genes, Dominant*
  • Heterozygote
  • Humans
  • Models, Genetic
  • Molecular Sequence Data
  • Night Blindness / classification
  • Night Blindness / enzymology
  • Night Blindness / genetics*
  • Pedigree
  • Point Mutation*
  • Polymorphism, Genetic
  • Rod Cell Outer Segment / enzymology*
  • Sequence Alignment
  • Sequence Homology, Amino Acid


  • 3',5'-Cyclic-GMP Phosphodiesterases