Molecular diagnosis of maturity-onset diabetes of the young in a cohort of Chinese children.
Aijing XuYunting LinHuiying ShengJing ChengHuifen MeiTzer Hwu TingChunhua ZengCuili LiangWen ZhangCuiling LiXiuzhen LiLi LiuPublished in: Pediatric diabetes (2020)
Most MODY cases in this study were due to GCK mutations, which is in contrast to previous reports in Chinese patients. Diabetes associated with extrapancreatic features should be a clinical criterion for MODY genetic analysis. Mutational analysis by WES provided a precise diagnosis of MODY subtypes. Moreover, WES can be useful for detecting large deletions in coding regions in addition to point mutations.