Exome sequencing data for CLEC3B

Genomic DNA was extracted from peripheral blood using the Genomic DNA Extraction Kit (Invitrogen, Grand Island, NY, US). Exome sequencing data from six patients with inherited macular disorders and three healthy relatives, were analyzed for shared rare variants. ES data of six affected individuals (F1: IV-24, F1: VI-2, F2: IV-2, F3: IV-2, F3: V-3, and F5: V-10) and three unaffected siblings (F3: V-4, F3: V-6 and F5: IV-13) from five Japanese families. A total of ten variants in the SCN11A, GORASP1, ZNF662, TGM4, CLEC3B, DSPP, SYT8, ZCCHC14, and EVPL genes, were consistent with cosegregation analysis.本研究采用基因组DNA提取试剂盒（Genomic DNA Extraction Kit，美国纽约州格兰艾兰得Invitrogen公司）从外周血中提取基因组DNA。对6名遗传性黄斑疾病患者与3名健康亲属的外显子测序（Exome sequencing）数据展开分析，以筛选共享的罕见变异。本次分析涵盖来自5个日本家系的6名受累个体（F1: IV-24、F1: VI-2、F2: IV-2、F3: IV-2、F3: V-3及F5: V-10）与3名未受累同胞（F3: V-4、F3: V-6及F5: IV-13）的外显子测序数据。最终在SCN11A、GORASP1、ZNF662、TGM4、CLEC3B、DSPP、SYT8、ZCCHC14及EVPL基因中共鉴定出10个变异位点，经共分离分析验证符合共分离特征。