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

Curr Diab Rep

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

Published: February 2019

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. 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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http://dx.doi.org/10.1007/s11892-019-1130-9DOI Listing

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