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2 WFS1 基因R558H突变测序图 Note： ref—reference allele; alt—alter allele. Ⅲ2, Ⅲ1, Ⅱ3, and Ⅰ1 all carried the G/A heterozygous missense mutation.

Fig 2 Sequencing of R588H mutation of WFS1 gene