Recognition of maturity‐onset diabetes of the young in China

• DOI: 10.1111/jdi.13378
• Publication Date: 2020-08-02T14:20:03Z
• Authors: Hua Liang; Yanan Zhang; Maixinyue Li; Jinhua Yan; Daizhi Yang; Sihui Luo; Xueying Zheng; Guoqing Yang; Zhuo Li; Wen Xu; Leif Groop; Jianping Weng
• Keywords: HNF1A; Sanger sequencing; Proband; Nonsense mutation

Given that mutations related to maturity-onset diabetes of the young (MODY) are rarely found in Chinese populations, we aim characterize mutation spectrum MODY pedigrees.Maturity-onset candidate gene- or exome-targeted capture sequencing was carried out 76 probands from unrelated families fulfilling clinical diagnostic criteria for MODY. MAF <0.01 GnomAD ExAC database used filter significant variants. Sanger then validate findings. Function prediction by SIFT, PolyPhen-2 and PROVEAN CADD missense mutations.A total 32 six genes were identified 31 families, accounting 40.79% potential families. The subtype detection rate 18.42% GCK, 15.79% HNF1A, 2.63% HNF4A, 1.32% KLF11, PAX4 NEUROG3. Seven nonsense/frameshift four with damaging newly novel mutations. features MODY2, MODY3/1 MODYX similar previous reports. Clinical phenotype NEUROG3 p.Arg55Glufs*23 is characterized hyperglycemia mild intermittent abdominal pain.This study adds emerging pattern epidemiology proportion explained known pathogenic higher than previously reported, as a new causative gene