A Novel De Novo Missense Mutation in HNF4A Resulting in Sulfonylurea-Responsive Maturityonset Diabetes of the Young

Özet

Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with autosomal-dominant inheritance, which usually develops before25 years of age. MODY is classically caused by a heterozygous mutation of genes known to affect insulin production or secretion. Heterozygousinactivating hepatocyte nuclear factor 4A (HNF4A) mutations, one of the rare subtypes of MODY, cause impaired insulin secretion and subsequentglucose intolerance especially in adolescence. Conversely, HNF4A mutations are also known to be associated with macrosomia and hyperinsulinemichypoglycemia in newborns. Herein, we report a rare cause of diabetes resulting from a novel heterozygous mutation in the HNF4A gene. In conclusion,genetic testing should be considered in order to establish an accurate diagnosis and provide an opinion in determining the appropriate type oftreatment.