Maturity-onset diabetes of the young resulting from a novel mutation in the HNF-4alpha gene.
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.
Hara
Kazuo
K
Department of Metabolic Diseases, Graduate School of Medicine, University of Tokyo.
Noda
Mitsuhiko
M
Waki
Hironori
H
Tobe
Kazuyuki
K
Yamauchi
Toshimasa
T
Kadowaki
Hiroko
H
Satou
Hiroaki
H
Tsukamoto
Kazuhisa
K
Nagamatsu
Shinya
S
Yamagata
Kazuhiro
K
Matsuzawa
Yuji
Y
Akanuma
Yasuo
Y
Kimura
Satoshi
S
Kadowaki
Takashi
T
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
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