publication . Article . 2017

Monogenic diabetes associated with PAX4 gene mutations (MODY9): first description in Russia

Natalya A. Zubkova; Olesya A. Gioeva; Vasiliy M. Petrov; Evgeny V. Vasiliev; Alexei V. Timofeev; Anna V. Abrukova; Anatoly N. Tiulpakov;
Open Access English
  • Published: 01 Dec 2017 Journal: Saharnyj Diabet (issn: 2072-0351, eissn: 2072-0378, Copyright policy)
  • Publisher: UP Print
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 13. 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 anot...
Subjects
free text keywords: maturity-onset diabetes of the young, gestational diabetes mellitus, mody, pax4, mody9, ngs, Nutritional diseases. Deficiency diseases, RC620-627
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