A novel mutation in exon 17 of the beta-subunit of rod phosphodiesterase in two RP sisters of a consanguineous family

Hum Genet. 1996 Jan;97(1):35-8. doi: 10.1007/BF00218829.


We report the molecular analysis of the beta subunit of the rod phosphodiesterase (PDEB) gene in a consanguineous autosomal recessive retinitis pigmentosa family that shows homozygosity for polymorphisms in the genomic region comprising this gene, and positive linkage between a PDEB marker and the disease. The two affected sisters are homozygous for a T to G transversion in codon 699 of the PDEB gene, leading to the substitution of a leucine by an arginine residue. This change, enclosed in the catalytic domain of the PDEB, could result in a modification of the protein structure preventing the physiological hydrolysis of cGMP.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3',5'-Cyclic-GMP Phosphodiesterases / chemistry
  • 3',5'-Cyclic-GMP Phosphodiesterases / genetics*
  • Amino Acid Sequence
  • Arginine
  • Base Sequence
  • Codon
  • Consanguinity
  • Cyclic Nucleotide Phosphodiesterases, Type 6
  • Female
  • Humans
  • Leucine
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Phosphoric Diester Hydrolases*
  • Point Mutation*
  • Polymorphism, Single-Stranded Conformational
  • Retinal Rod Photoreceptor Cells / enzymology*
  • Retinitis Pigmentosa / enzymology
  • Retinitis Pigmentosa / genetics*


  • Codon
  • Arginine
  • Phosphoric Diester Hydrolases
  • 3',5'-Cyclic-GMP Phosphodiesterases
  • Cyclic Nucleotide Phosphodiesterases, Type 6
  • PDE6B protein, human
  • Leucine