A Novel Mutation and Phenotype in Phophodieterae 6 Deficiency Original Reearch Article

Purpoe To develop a ytematic approach for the molecular diagnoi of retiniti pigmentoa (RP) and to report new genotype-phenotype correlation for phophodieterae 6 (PDE6)-baed RP mutation. Deign Clinical and molecular tudie on a retropective cae erie. Method We creened 40 unrelated RP patient with an autoomal receive RP microarray. Individual with RP caued by PDE6 deficiency underwent genetic egregation and phenotype analyi. Reult A dieae-aociated allele wa identified in 32% of patient. Two proband (5%) had PDE6 mutation. The firt proband wa a compound heterozygote for known R102C and N216 allele in PDE6A (MIM#180071). Pedigree analyi determined that the N216 variant wa benign and direct equencing dicovered a novel, 303C allele. The econd proband had a homozygou D600N mutation in the PDE6B gene (MIM#180072). Viual acuitie of PDE6-deficient patient ranged from 20/40 to 20/200. Clinical tudie howed unuual vitreomacular traction, cytoid macular edema, macular atrophy, and ring hyperfluorecence in PDE6-deficient patient. uch extenive vitreoretinal degeneration i not characteritic of photoreceptor-pecific enzyme deficiencie. Concluion High-throughput deoxyribonucleic acid microarray chip can be ued in combination with clinical imaging to preciely characterize patient with RP. Identifying the precie mutation in RP may become the tandard of care a gene therapy emerge.