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

Summary Aims The goal of this study was to determine the frequency of mutation in hepatic nuclear factor (HNF)‐1α, a gene recently implicated as causing maturity‐onset diabetes of the young (MODY) and to analyse the respective clinical presentations in an ethnically Chinese population. Methods Fifteen unrelated subjects (nine females and six males) aged less than 35 years who had early‐onset diabetes were analysed to test the possibility that mutation of the HNF‐1α gene was responsible for this disorder. Genomic DNA extraction, polymerase chain reaction and DNA sequence analysis were performed accordingly. Results One patient with MODY had a novel missense mutation in exon 3 of the HNF‐1α gene (Y218C) in a region of the protein that corresponds to a predicted DNA binding domain.Conclusions A Y218C mutation in HNF‐1α gene was identified in one family in Taiwan.