Brief Genetics Report: Allelic Drop-Out in Exon 2 of the Hepatocyte Nuclear Factor-1α Gene Hinders the Identification of Mutations in Three Families With Maturity-Onset Diabetes of the Young

摘要

Maturity-onset diabetes of the young (MODY) is a monogenic form of type 2 diabetes charac- terized by autosomal dominant inheritance, an early age of onset (usually <25 years of age) and β-cell dysfunction (1). Genetic heterogeneity has been demonstrated by the identification of live genes to date. The most common cause of MODY in most populations is a muta- tion in the hepatocyte nuclear factor (HNF)-1α gene (MODY3) (2-10). Mutations in the glucokinase gene are asso- ciated with MODY2 (11,12), and a small number of families have been reported that have mutations in the hnf-4α (13-15), insulin promoter factor-1 (16), or HNF-1β (17,18) genes. At least one additional gene has not yet been localized.