A novel mutation in the hepatocyte nuclear factor-1 alpha/MODY3 gene in Chinese subjects with early-onset Type 2 diabetes mellitus in Taiwan

Aims The goal of this study was to determine the frequency of mutation in h epatic nuclear factor (HNF)-1 alpha, a gene recently implicated as causing maturity-onset diabetes of the young (MODY) and to analyse the respective c linical presentations in an ethnically Chinese population. Methods Fifteen unrelated subjects (nine females and six males) aged less t han 35 years who had early-onset diabetes were analysed to test the possibi lity that mutation of the HNF-1 alpha gene was responsible for this disorde r. Genomic DNA extraction, polymerase chain reaction and DNA sequence analy sis were performed accordingly. Results One patient with MODY had a novel missense mutation in exon 3 of th e HNF-1 alpha gene (Y218C) in a region of the protein that corresponds to a predicted DNA binding domain. Conclusions A Y218C mutation in HNF-1 alpha gene was identified in one fami ly in Taiwan.