File S1 - Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing

Contains the following files: Figure S1. Color fundus photographs of the patients. Color fundus photograph of probands from family A (A), family C (B) and family D (C). All of images showed bull's-eye maculopathy, which is one of the standards for Stargardt disease diagnosis. Figure S2. DNA sequence chromatograms of the controls. DNA sequence chromatograms of the controls. The peaks pointed out by red arrow were the mutation sites identified in this study (here is the wild-type). Figure S3. Visual field testing of the patient from family E. Visual field testing showed central scotomas, while the periphery was spared. Figure S4. Electro-oculogram of the patient from family E. The decreased Arden ratios of the electro-oculogram (EOG) were 1.2 and 1.5, compared with that of normal (1.8). Figure S5. ABCA4 mutations at protein level. The mutations were mapping to each domains of the ABCA4 protein. Each line in red represents one mutation. Blue lines represent mutation identified in this study. Figure S6. ABCA4 mutations and their relative frequencies at protein level. The mutations were mapped to each domains of the ABCA4 protein. There are four mutation-rich loops (intercellular loop 4, intercellular loop 7 and extracelluar loop 1 and extracelluar loop 5). Here it suggests that they are in a key functional region of ABCA4. Figure S7. The mutations in each exon and their relative mutation rate in ABCA4-related diseases. We mapped all the ABCA4 mutations to its 50 exons and found five exons (3, 13, 22, 29 and 47) have more mutations per length than that of other exons. Table S1. PCR information for the amplication of ABCA4,PROM1 and VMD2 genes. Table S2. Capture Next Generation Sequencing of ABCA4, PROM1, PRPH2, VMD2 and ELOVL4 genes. Table S3. Additional DNA variants identified in CNGS. Table S4. Brief Comparison of Stargardt Disease and Cone-Rod Dystrophy.

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