Maturity-onset diabetes of the young resulting from a novel mutation in the HNF-4α gene

Kazuo Hara; Mitsuhiko Noda; Hironori Waki; Kazuyuki Tobe; Toshimasa Yamauchi; Hiroko Kadowaki; Hiroaki Satou; Kazuhisa Tsukamoto; Shinya Nagamatsu; Kazuhiro Yamagata; Yuji Matsuzawa; Yasuo Akanuma; Satoshi Kimura; Takashi Kadowaki

doi:10.2169/internalmedicine.41.848

Maturity-onset diabetes of the young resulting from a novel mutation in the HNF-4α gene

Kazuo Hara
, Mitsuhiko Noda
, Hironori Waki
, Kazuyuki Tobe
, Toshimasa Yamauchi
, Hiroko Kadowaki
, Hiroaki Satou
, Kazuhisa Tsukamoto
, Shinya Nagamatsu
, Kazuhiro Yamagata
, Yuji Matsuzawa
, Yasuo Akanuma
, Satoshi Kimura
, Takashi Kadowaki

The University of Tokyo
The Institute for Adult Diseases, Asahi Life Foundation
Kyorin University
The University of Osaka

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

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-4α 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.

Original language	English
Pages (from-to)	848-852
Number of pages	5
Journal	Internal Medicine
Volume	41
Issue number	10
DOIs	https://doi.org/10.2169/internalmedicine.41.848
State	Published - 1 Oct 2002
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Direct sequencing
Genetic counseling
Genetic testing
Transcriptional activity
β-cell function

Access to Document

10.2169/internalmedicine.41.848

Cite this

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title = "Maturity-onset diabetes of the young resulting from a novel mutation in the HNF-4α 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-4α 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.",

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doi = "10.2169/internalmedicine.41.848",

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AU - Hara, Kazuo

AU - Noda, Mitsuhiko

AU - Waki, Hironori

AU - Tobe, Kazuyuki

AU - Yamauchi, Toshimasa

AU - Kadowaki, Hiroko

AU - Satou, Hiroaki

AU - Tsukamoto, Kazuhisa

AU - Nagamatsu, Shinya

AU - Yamagata, Kazuhiro

AU - Matsuzawa, Yuji

AU - Akanuma, Yasuo

AU - Kimura, Satoshi

AU - Kadowaki, Takashi

PY - 2002/10/1

Y1 - 2002/10/1

N2 - 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-4α 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.

AB - 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-4α 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.

KW - Direct sequencing

KW - Genetic counseling

KW - Genetic testing

KW - Transcriptional activity

KW - β-cell function

UR - https://www.scopus.com/pages/publications/0036808412

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DO - 10.2169/internalmedicine.41.848

M3 - 記事

AN - SCOPUS:0036808412

SN - 0918-2918

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SP - 848

EP - 852

JO - Internal Medicine

JF - Internal Medicine

IS - 10

ER -

Maturity-onset diabetes of the young resulting from a novel mutation in the HNF-4α gene

Abstract

UN SDGs

Keywords

Access to Document

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