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4 Wolframin蛋白野生型及突变型三维结构 Note： WT—wild-type wolframin protein; R558H—R558H mutant wolframin protein. Dashed boxes indicate the protein structures surrounding the 558 amino acids. Red indicates the α-helix of the secondary structure of wolframin protein; green indicates the β-sheet of the secondary structure of wolframin protein.

Fig 4 Three-dimensional structures of wild-type and mutant wolframin proteins