A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens

Abstract

The murine rds (retinal degeneration slow) allele is a semidominant null allele that causes photoreceptor degeneration. The wild-type sequence at the rds locus encodes a photoreceptor disc membrane protein named peripherin/RDS. Mutations in the homologous human peripherin/RDS gene can cause autosomal dominant retinitis pigmentosa, but these are missense mutations or deletions of single codons. No obvious null alleles have been reported in humans, so that the human phenotype corresponding to rds is as yet unknown. Here we report a 2-basepair deletion in codon 25 of the human gene in a family with autosomal dominant retinitis punctata albescens, suggesting that this disease, rather than retinitis pigmentosa, is the comparable human phenotype.