Elucidation of the molecular etiology and pathophysiology of neonatal diabetes mellitus

对65例日本新生儿糖尿病患者中53例的分子基础进行了鉴定。染色体6q24异常只与发生率为30%的暂时性新生儿糖尿病有关。KCNJ11基因突变存在于大多数永久性新生儿糖尿病患者中。ABCC8基因、INS基因、GATA6基因和FOXP3基因突变也是日本患者的致病基因。我们首次报道了6号染色体部分单亲父亲二体导致新生儿短暂性糖尿病。此外，我们还在胰腺发育不全、先天性心脏病和先天性胃肠道异常患者中发现了GATA6突变。

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.