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Genetic Dissection and Clinical Features of MODY6 (NEUROD1-MODY)

  • Pediatric Type 2 and Monogenic Diabetes (O Pinhas-Hamiel, Section Editor)
  • Published:
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Abstract

Purpose of Review

MODY6 due to mutations in the gene NEUROD1 is very rare, and details on its clinical manifestation and pathogenesis are scarce. In this review, we have summarized all reported cases of MODY6 diagnosed by genetic testing, and examined their clinical features in detail.

Recent Findings

MODY6 is a low penetrant MODY, suggesting that development of the disease is affected by genetic modifying factors, environmental factors, and/or the effects of interactions of genetic and environmental factors, as is the case with MODY5. Furthermore, while patients with MODY6 can usually achieve good glycemic control without insulin, when undiagnosed they are prone to become ketotic with chronic hyperglycemia, and microangiopathy can progress. MODY6 may also cause neurological abnormalities such as intellectual disability.

Summary

MODY6 should be diagnosed early and definitively by genetic testing, so that the correct treatment can be started as soon as possible to prevent chronic hyperglycemia.

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Funding

This work was supported by a Health and Labor Science Research Grant for Research on Rare and Intractable Diseases from the Japanese Ministry of Health, Labor and Welfare; a Grant-in-Aid for Scientific Research from the Japanese Ministry of Science, Education, Sports, Culture and Technology; and a Strategic International Research Cooperative Program Grant from Japan Science and Technology Agency.

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Authors and Affiliations

  1. Department of Diabetes and Endocrinology, Graduate School of Medicine, Gifu University, 1-1 Yanagido, Gifu city, Gifu, 501-1194, Japan

    Yukio Horikawa & Mayumi Enya

Authors
  1. Yukio Horikawa
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  2. Mayumi Enya
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Corresponding author

Correspondence to Yukio Horikawa.

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Conflict of Interest

Yukio Horikawa and Mayumi Enya declare that they have no conflict of interest.

Human Rights and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1964 and later revision. Informed consent or substitute for it was obtained from all patients for being included in the study.

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This article is part of the Topical Collection on Pediatric Type 2 and Monogenic Diabetes

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Horikawa, Y., Enya, M. Genetic Dissection and Clinical Features of MODY6 (NEUROD1-MODY). Curr Diab Rep 19, 12 (2019). https://doi.org/10.1007/s11892-019-1130-9

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  • DOI: https://doi.org/10.1007/s11892-019-1130-9

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