Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1
Abstrakt
The aim of the study was to search for mutations in the NEUROD1 and IPF-1 genes in patients with clinical characteristics of maturity-onset diabetes of the young (MODY) but with no mutations in the HNF-4A (MODY1), GCK (MODY2) and TCF1 (MODY3) genes. We studied 30 unrelated Czech probands with a clinical diagnosis of MODY (median age at testing, 18 yr; median age at the recognition of hyperglycaemia, 16 yr).
The promoter, exons and exon/intron boundaries of the NEUROD1 and IPF-1 genes were examined by polymerase chain reaction'denaturing high performance liquid chromatography and direct sequencing. We report a novel disease-associated variant in NEUROD1 identified among a set of MODYX families.
The variant seems to precipitate type-2-like diabetes in excessively obese individuals.