title: Maturity-onset diabetes of the young resulting from a novel mutation in the HNF-4alpha gene.
abstract: A 52-year-old woman with early-onset diabetes mellitus, severe diabetic retinopathy, and a family history of a dominant inheritance pattern was referred to our hospital. Direct sequencing revealed a novel mutation in the HNF-4alpha gene (R244Q). The position of the mutation in the amino-acid sequence of the gene is well conserved among species and transcriptional activity of the mutant gene was significantly reduced. Therefore, a diagnosis of maturity-onset diabetes of the young (MODY)-1 was made. Genetic testing enabled early diagnosis of diabetes in the patient's 20-year-old daughter, which we consider to be important for the prevention of diabetic complications.
authors.affiliation: Department of Metabolic Diseases, Graduate School of Medicine, University of Tokyo.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Hara
authors.forename: Mitsuhiko
authors.initials: M
authors.lastname: Noda
authors.forename: Hironori
authors.initials: H
authors.lastname: Waki
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Tobe
authors.forename: Toshimasa
authors.initials: T
authors.lastname: Yamauchi
authors.forename: Hiroko
authors.initials: H
authors.lastname: Kadowaki
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Satou
authors.forename: Kazuhisa
authors.initials: K
authors.lastname: Tsukamoto
authors.forename: Shinya
authors.initials: S
authors.lastname: Nagamatsu
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Yamagata
authors.forename: Yuji
authors.initials: Y
authors.lastname: Matsuzawa
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Akanuma
authors.forename: Satoshi
authors.initials: S
authors.lastname: Kimura
authors.forename: Takashi
authors.initials: T
authors.lastname: Kadowaki
mesh_terms: D000328:Adult; D017668:Age of Onset; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D001786:Blood Glucose / Q000032:analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005951:Glucose Tolerance Test; D051557:Hepatocyte Nuclear Factor 4; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010750:Phosphoproteins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014158:Transcription, Genetic / Q000502:physiology
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D001786:Blood Glucose; D004268:DNA-Binding Proteins; C496592:HNF4A protein, human; D051557:Hepatocyte Nuclear Factor 4; C403128:MLX protein, human; D010750:Phosphoproteins; D014157:Transcription Factors