Clinical manifestations of a sporadic maturity-onset diabetes of the young (MODY) 5 with a whole deletion of <i>HNF1B</i> based on 17q12 microdeletion
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- Omura Yoshiyuki
- 1st Department of Internal Medicine, University of Toyama, Toyama, Japan
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- Yagi Kunimasa
- 1st Department of Internal Medicine, University of Toyama, Toyama, Japan
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- Honoki Hisae
- 1st Department of Internal Medicine, University of Toyama, Toyama, Japan
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- Iwata Minoru
- 1st Department of Internal Medicine, University of Toyama, Toyama, Japan
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- Enkaku Asako
- 1st Department of Internal Medicine, University of Toyama, Toyama, Japan
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- Takikawa Akiko
- 1st Department of Internal Medicine, University of Toyama, Toyama, Japan
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- Kuwano Takahide
- 1st Department of Internal Medicine, University of Toyama, Toyama, Japan
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- Watanabe Yoshiyuki
- 1st Department of Internal Medicine, University of Toyama, Toyama, Japan
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- Nishimura Ayumi
- 1st Department of Internal Medicine, University of Toyama, Toyama, Japan
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- Liu Jianhui
- 1st Department of Internal Medicine, University of Toyama, Toyama, Japan
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- Chujo Daisuke
- 1st Department of Internal Medicine, University of Toyama, Toyama, Japan
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- Fujisaka Shiho
- 1st Department of Internal Medicine, University of Toyama, Toyama, Japan
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- Enya Mayumi
- Department of Diabetes and Endocrinology, Gifu University Graduate School of Medicine, Gifu, Japan
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- Horikawa Yukio
- Department of Diabetes and Endocrinology, Gifu University Graduate School of Medicine, Gifu, Japan
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- Tobe Kazuyuki
- 1st Department of Internal Medicine, University of Toyama, Toyama, Japan
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Abstract
<p>We report a sporadic case of maturity-onset diabetes of the young type 5 (MODY5) with a whole-gene deletion of the hepatocyte nuclear factor-1beta (HNF1B) gene. A 44-year-old Japanese man who had been diagnosed with early-onset non-autoimmune diabetes mellitus at the age of 23 was examined. He showed multi-systemic symptoms, including a solitary congenital kidney, pancreatic hypoplasia, pancreatic exocrine dysfunction, elevation of the serum levels of liver enzymes, hypomagnesemia, and hyperuricemia. These clinical characteristics, in spite of the absence of a family history of diabetes, prompted us to make the diagnosis of maturity-onset diabetes of the young 5 (MODY 5). One allele deletion of the entire HNF1B gene revealed by multiplex ligation-dependent probe amplification (MLPA) led us to the diagnoses of 17q12 microdeletion syndrome even though there were negative chromosomal analyses with array comparative genomic hybridization (CGH). 17q12 microdeletion syndrome, which is not rare especially in sporadic cases since 17q12 is a typical hot spot for chromosomal deletion, could have complicated the clinical heterogeneity of MODY5.</p>
Journal
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- Endocrine Journal
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Endocrine Journal 66 (12), 1113-1116, 2019
The Japan Endocrine Society