hrp0086p1-p248 | Diabetes P1 | ESPE2016

GCK Mutations in Chinese MODY2 Patients: A Family Pedigree Report and Review of Chinese Literature

Ping Xiao Yu , Xu Xiao Hua , Lan Fang Yan , Qiong Jiang Li , Chen Chun , Liang Li , Lin Wang Chun

Background: Maturity-onset diabetes of the young, type 2 (MODY2), caused by mutations in the glucokinase (GCK) gene is rare in a Chinese population.Objective and hypotheses: We report three Chinese families with MODY2 and sequenced the GCK gene to find novo mutation.Method: Three unrelated Chinese families with MODY2 and pedigrees were investigated. In Family 1, the proband was a 7-year-old girl with impaired fasting glucose (IFG) ...