Detection Rate of Pathogenic Mutations in ABCA4 Using Direct Sequencing: Clinical and Research Implications

Downes SM, Packham E, Cranston T, et al. — Thu, 01 Nov 2012 00:00:00 GMT

We set out to determine the mutation detection rate in 50 subjects referred with possible Stargardt disease (STGD) using direct sequencing of the ABCA4 gene (GenBank NM_000350). Pathogenic mutations in ABCA4 have been found to cause Stargardt disease (STGD)/fundus flavimaculatus as well as some cases of cone-rod dystrophy, autosomal recessive retinitis pigmentosa, and bull’s-eye maculopathy.

JAMA Ophthalmology: Genetic Testing Topic Collection

Detection Rate of Pathogenic Mutations in ABCA4 Using Direct Sequencing: Clinical and Research Implications