Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

摘要: Maturity-onset diabetes of the young (MODY) is a monogenic disorder characterized by autosomal dominant inheritance young-onset (typically <25 years), noninsulin-dependent due to defective insulin secretion. MODY both clinically and genetically heterogeneous with mutations in at least 10 genes. Mutations HNF1A gene encoding hepatocyte nuclear factor-1 alpha are most common cause adult populations studied. The number different pathogenic totals 414 1,247 families. HNF4A factor-4 rarer 103 reported 173 families date. Sensitivity treatment sulfonylurea tablets feature mutations. phenotype has been expanded reports macrosomia ∼50% babies, more rarely, neonatal hyperinsulinemic hypoglycemia. identification an or mutation important implications for clinical management pregnancy, but significantly underdiagnosed. Current research focused on identifying biomarkers developing probability models identify those patients likely have MODY, until next generation sequencing technology enables cost-effective analysis all onset diabetes.