Elucidation of the molecular etiology and pathophysiology of neonatal diabetes mellitus

点击翻译按钮获取中文摘要

Molecular basis for 53 out of 65 Japanese patients with neonatal diabetes mellitus were identified. Chromosome 6q24 abnormalities have exclusively been concerned with transient neonatal diabetes with incidence of 30%. KCNJ11 gene mutations were identified with most of patients with permanent neonatal diabetes mellitus. ABCC8 gene, INS gene, GATA6 gene and FOXP3 gene mutations were also causative gene for Japanese patients. We firstly reported that partial uniparental paternal disomy of chromosome 6 caused transient neonatal diabetes. In addition, we identified the GATA6 mutations in the patients with pancreatic agenesis, congenital heart disease and congenital gastrointestinal tract anomaly.