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

Abstract

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.

• Authors: A Gal, U Orth, W Baehr, E Schwinger, T Rosenberg
• Journal: Nature genetics (Nat Genet) Vol. 7 Issue 1 Pg. 64-8 (May 1994) ISSN: 1061-4036 [Print] United States
• PMID: 8075643 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• 3',5'-Cyclic-GMP Phosphodiesterases

Topics

• 3',5'-Cyclic-GMP Phosphodiesterases (deficiency, 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, enzymology, genetics)
• Pedigree
• Point Mutation
• Polymorphism, Genetic
• Rod Cell Outer Segment (enzymology)
• Sequence Alignment
• Sequence Homology, Amino Acid