Hereditary variant of diabetes mellitus caused by a defect of the NEUROD1 gene (MODY6): the first description in Russia
https://doi.org/10.14341/probl201662316-20
Abstract
MODY (Maturity-Onset diabetes of the young) is a heterogeneous group of disorders characterized by autosomal dominant type of inheritance and caused by genetic defects leading to dysfunction of pancreatic b-cells. Currently 13 candidate genes of MODY, and, respectively, 13 MODY subtypes are known. The final diagnosis can be established only on the basis of molecular genetic studies, which is the «gold standard» in the diagnosis of this disease. MODY2 and MODY3 are the most prevalent subtypes and were previously described in our country. Rare MODY subtypes have not been described in Russian literature. In this article we describe the first diagnosed case of MODY6 in Russia (a defect of the NEUROD1 gene, encoding neurogenic differentiation factor 1, which plays an important role in normal differentiation of β-cells of the pancreas and the regulation of transcription of the insulin gene). Molecular genetic study was conducted using the method of next-generation sequencing, has recently been widely used for genetic verification of monogenic diseases and, in particular, MODY. Technology of next-generation sequencing for diagnosing inherited disorders of carbohydrate metabolism in domestic practice used for the first time.
About the Authors
Olesya A. Gioeva
Endocrinology Research Centre
Russian Federation
MD
Russian Federation
MD
Anna A. Kolodkina
Endocrinology Research Centre
Russian Federation
MD, PhD
Russian Federation
MD, PhD
Evgeny V. Vasilyev
Endocrinology Research Centre
Russian Federation
PhD
Russian Federation
PhD
Vasiliy M. Petrov
Endocrinology Research Centre
Russian Federation
PhD
Russian Federation
PhD
Anatoly N. Tiulpakov
Endocrinology Research Centre
Russian Federation
MD, PhD
Russian Federation
MD, PhD
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For citations:
Gioeva O.A., Kolodkina A.A., Vasilyev E.V., Petrov V.M., Tiulpakov A.N. Hereditary variant of diabetes mellitus caused by a defect of the NEUROD1 gene (MODY6): the first description in Russia. Problems of Endocrinology. 2016;62(3):16-20. https://doi.org/10.14341/probl201662316-20
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