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

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

[学科分类] 生物化学/生物物理