RECESSIVE MUTATIONS IN THE GENE ENCODING THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE IN PATIENTS WITH RETINITIS-PIGMENTOSA

We have found four mutations in the human gene encoding the beta-subun it of rod cGMP phosphodiesterase (PDE beta) that cosegregate with auto somal recessive retinitis pigmentosa, a degenerative disease of photor eceptors. In one family two affected siblings both carry allelic nonse nse mutations at codons 298 and 531. Affected individuals have abnorma l rod and cone electroretinograms. PDE beta is the second member of th e phototransduction cascade besides rhodopsin that is absent or altere d as a cause of retinitis pigmentosa, suggesting that other members of this pathway may be defective in other forms of this disease.