File S1 - Wolfram Syndrome in the Japanese Population; Molecular Analysis of WFS1 Gene and Characterization of Clinical Features

This file contains Supporting Figures and Tables. Figure S1. Multiplex Ligation–dependent Probe Amplification (MLPA) analysis. MLPA was performed in seven patients without recessive WFS1 mutations. The luminescence peak area of WFS1 exons measured in each patient relative to that of a healthy control subject was expressed graphically. Figure S2. Ages at onset of both diabetes mellitus and optic atrophy in each patient in three genotypic classes. Ages at onset of both diabetes mellitus and optic atrophy are shown in the same graph. Patients are color-coded according to their mutation categories. Group 1 (severe) is in red, group 2 (mild) in blue, and group 3 (intermediate) in green. Table S1. PCR and sequencing primers for WFS1. Table S2. DNA probes corresponding to the indicated mutations in WFS1 for TaqMan PCR analysis. Table S3. The list of detectable polymorphisms in the WFS1 gene. Table S4. In silico scores and predictions of deleterious effects of missense mutations on the WFS1 protein. (PDF)