A COMPLEX ALLELE (1064DELTC AND IVS2+22INS7) IN THE PERIPHERIN RDS GENE IN RETINITIS-PIGMENTOSA WITH MACULAR DYSTROPHY/

Because mutations in the peripherin/RDS gene have been found in retina l dystrophies involving the macula, we examined various types of macul ar dystrophies from southern France to characterize sequence variation s that may be associated with these conditions. DNA sequence analysis of the full coding and flanking regions of the peripherin/RDS gene was performed in fifteen unrelated patients with different types of macul ar dystrophy, including nine with retinitis pigmentosa (RP). Of the 15 probands with macular disease, two (13.3%) were found to carry a muta tion in the peripherin/RDS gene. The recurrent mutation P216S was iden tified in a pedigree with autosomal dominant RP. A previously unreport ed complex allele (1064delTC associated with IVS2+22ins7) that is pred icted to result in the premature termination of peripherin/RDS synthes is was identified in a sporadic case of macular atrophy with RP. We al so report eight novel neutral sequence variations in the peripherin/RD S gene, most of them found in the 3' untranslated part of the gene.