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

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 mo...

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Autores principales:	Natalya A. Zubkova, Olesya A. Gioeva, Vasiliy M. Petrov, Evgeny V. Vasiliev, Alexei V. Timofeev, Anna V. Abrukova, Anatoly N. Tiulpakov
Formato:	article
Lenguaje:	EN RU
Publicado:	Endocrinology Research Centre 2017
Materias:	maturity-onset diabetes of the young gestational diabetes mellitus mody pax4 mody9 ngs Nutritional diseases. Deficiency diseases RC620-627
Acceso en línea:	https://doaj.org/article/dcd57f6c06544c2088586f6c764af6a9
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spelling	oai:doaj.org-article:dcd57f6c06544c2088586f6c764af6a92021-11-14T09:00:21ZMonogenic diabetes associated with PAX4 gene mutations (MODY9): first description in Russia2072-03512072-037810.14341/DM9322https://doaj.org/article/dcd57f6c06544c2088586f6c764af6a92017-12-01T00:00:00Zhttps://www.dia-endojournals.ru/jour/article/view/9322https://doaj.org/toc/2072-0351https://doaj.org/toc/2072-0378Maturity-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.Natalya A. ZubkovaOlesya A. GioevaVasiliy M. PetrovEvgeny V. VasilievAlexei V. TimofeevAnna V. AbrukovaAnatoly N. TiulpakovEndocrinology Research Centrearticlematurity-onset diabetes of the younggestational diabetes mellitusmodypax4mody9ngsNutritional diseases. Deficiency diseasesRC620-627ENRUСахарный диабет, Vol 20, Iss 5, Pp 384-387 (2017)
institution	DOAJ
collection	DOAJ
language	EN RU
topic	maturity-onset diabetes of the young gestational diabetes mellitus mody pax4 mody9 ngs Nutritional diseases. Deficiency diseases RC620-627
spellingShingle	maturity-onset diabetes of the young gestational diabetes mellitus mody pax4 mody9 ngs Nutritional diseases. Deficiency diseases RC620-627 Natalya A. Zubkova Olesya A. Gioeva Vasiliy M. Petrov Evgeny V. Vasiliev Alexei V. Timofeev Anna V. Abrukova Anatoly N. Tiulpakov Monogenic diabetes associated with PAX4 gene mutations (MODY9): first description in Russia
description	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.
format	article
author	Natalya A. Zubkova Olesya A. Gioeva Vasiliy M. Petrov Evgeny V. Vasiliev Alexei V. Timofeev Anna V. Abrukova Anatoly N. Tiulpakov
author_facet	Natalya A. Zubkova Olesya A. Gioeva Vasiliy M. Petrov Evgeny V. Vasiliev Alexei V. Timofeev Anna V. Abrukova Anatoly N. Tiulpakov
author_sort	Natalya A. Zubkova
title	Monogenic diabetes associated with PAX4 gene mutations (MODY9): first description in Russia
title_short	Monogenic diabetes associated with PAX4 gene mutations (MODY9): first description in Russia
title_full	Monogenic diabetes associated with PAX4 gene mutations (MODY9): first description in Russia
title_fullStr	Monogenic diabetes associated with PAX4 gene mutations (MODY9): first description in Russia
title_full_unstemmed	Monogenic diabetes associated with PAX4 gene mutations (MODY9): first description in Russia
title_sort	monogenic diabetes associated with pax4 gene mutations (mody9): first description in russia
publisher	Endocrinology Research Centre
publishDate	2017
url	https://doaj.org/article/dcd57f6c06544c2088586f6c764af6a9
work_keys_str_mv	AT natalyaazubkova monogenicdiabetesassociatedwithpax4genemutationsmody9firstdescriptioninrussia AT olesyaagioeva monogenicdiabetesassociatedwithpax4genemutationsmody9firstdescriptioninrussia AT vasiliympetrov monogenicdiabetesassociatedwithpax4genemutationsmody9firstdescriptioninrussia AT evgenyvvasiliev monogenicdiabetesassociatedwithpax4genemutationsmody9firstdescriptioninrussia AT alexeivtimofeev monogenicdiabetesassociatedwithpax4genemutationsmody9firstdescriptioninrussia AT annavabrukova monogenicdiabetesassociatedwithpax4genemutationsmody9firstdescriptioninrussia AT anatolyntiulpakov monogenicdiabetesassociatedwithpax4genemutationsmody9firstdescriptioninrussia
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Monogenic diabetes associated with PAX4 gene mutations (MODY9): first description in Russia

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