家系全外显子组测序鉴定Wolfram综合征致病突变及其临床性状分析

孟祥雨, 闫丹丹, 陈香慧, 赖思宇, 徐云, 耿瑞娜, 张红, 张蓉, 胡承, 严婧

Identification of pathogenic mutations for a Wolfram syndrome pedigree by whole exome sequencing and analysis of its clinical characteristics

MENG Xiangyu, YAN Dandan, CHEN Xianghui, LAI Siyu, XU Yun, GENG Ruina, ZHANG Hong, ZHANG Rong, HU Cheng, YAN Jing

图3 WFS1 基因S411Cfs*131突变测序图 Note： ref—reference allele; alt—alter allele. Ⅲ2, Ⅲ1, Ⅱ4 and Ⅰ3 all carried the GCT/G heterozygous frameshift mutation.

Fig 3 Sequencing of S411Cfs*131 mutation of WFS1 gene