Sequencing of the HNF1α gene in an Uyghur patient with maturity onset diabetes of the young

Abstract

MODY (maturity onset diabetes of the young) is a monogenic form of diabetes mellitus characterised by autosomal dominant inheritance, onset usually before the age of 25, and a primary defect in the function of the beta cells of the pancreas. Mutations in the HNF1α gene (resulting in MODY3) are the most common cause of MODY. Here we describe the case of an 8-year-old Uyghur girl in Xinjiang Uyghur Autonomous region, China who presented with symptoms suggestive of MODY3, a disease rarely reported in the Uyghur ethnic group. The HNF1α gene was sequenced for mutations, and we found a number of previously reported polymorphisms as well as two new variants in the course of molecular genetic testing. This is the first reported MODY3 case in an Uyghur ethnic population. The patient was treated with MODY3 therapy. These results indicate that molecular genetic testing is essential in confirming a diagnosis of MODY.