Monogenic diabetes associated with PAX4 gene mutations (MODY9): first description in Russia
https://doi.org/10.14341/DM9322
Abstract
Maturity-onset diabetes of the young (MODY) is a heterogeneous group of disorders characterised by autosomal dominant type of inheritance and caused by genetic defects leading to dysfunction of pancreatic beta-cells. To date, at least 13 subtypes of MODY have been described in the literature, the most frequent of which are MODY types 1–3. MODY2 and MODY3 are the most prevalent subtypes, and were previously described in our country, Russia. Several cases of rare MODY subtypes were subsequently described in the Russian literature. The current report is the first in the Russian literature to present clinical and molecular genetic characteristics of two cases of another rare MODY subtype—MODY9. This type of MODY is associated with mutations in the PAX4 gene, which encodes transcription factor PAX4, one of the factors essential for pancreatic beta-cell differentiation. Molecular genetic analysis was performed using next-generation sequencing, a new method recently applied to verify monogenic diseases and, in particular, MODY. This study reports a novel mutation in the PAX4 gene in MODY patients.
About the Authors
Natalya A. ZubkovaEndocrinology Research Centre
Russian Federation
MD, PhD
Competing Interests:
No conflict of interests
Olesya A. Gioeva
Endocrinology Research Centre
Russian Federation
MD, PhD student
Competing Interests:
No conflict of interests
Vasiliy M. Petrov
Endocrinology Research Centre
Russian Federation
PhD in Chemistry
Competing Interests:
No conflict of interests
Evgeny V. Vasiliev
Endocrinology Research Centre
Russian Federation
PhD in Biology
Competing Interests:
No conflict of interests
Alexei V. Timofeev
I.M.Sechenov First Moscow State Medical University
Russian Federation
PhD in Biology
Competing Interests:
No conflict of interests
Anna V. Abrukova
Presidential Perinatal Centre
Russian Federation
MD, PhD
Competing Interests:
No conflict of interests
Anatoly N. Tiulpakov
Endocrinology Research Centre
Russian Federation
MD, PhD
Competing Interests:
No conflict of interests
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Review
For citations:
Zubkova N.A., Gioeva O.A., Petrov V.M., Vasiliev E.V., Timofeev A.V., Abrukova A.V., Tiulpakov A.N. Monogenic diabetes associated with PAX4 gene mutations (MODY9): first description in Russia. Diabetes mellitus. 2017;20(5):384-387. (In Russ.) https://doi.org/10.14341/DM9322

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