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

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

Keywords

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

UN SDGs

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

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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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T1 - Maturity-onset diabetes of the young resulting from a novel mutation in the HNF-4α gene

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

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DO - 10.2169/internalmedicine.41.848

M3 - 記事

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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

Keywords

UN SDGs

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