Mutation screening of the phosducin gene PDC in patients with retinitis pigmentosa and allied diseases

Purpose: To search for a phenotype associated with mutations in the phosducin gene PDC. Methods: We screened 853 patients with retinitis pigmentosa or an allied disease diseases, including groups of 61 to 212 patients, each with dominant retinitis pigmentosa (RP), recessive RP, Leber congenital amaurosis, or cone-rod degeneration, for mutations in the PDC gene using direct genomic sequencing of the three coding exons and their flanking intron splice sites. Results: We found one polymorphism in the 5′ untranslated region (minor allele frequency of 0.149) and three rare single-base sequence variants (one missense change, one isocoding change, and one in the 3′ untranslated region). The rare variants were found in one heterozygous patient each and none was interpreted as pathogenic. Conclusions: Phosducin mutations are not a major cause of dominant or recessive RP, Leber congenital amaurosis, or cone-rod degeneration. The human phenotype associated with phosducin defects remains unknown.