Mutations in transcription factor as rare causes of diabetes in pregnancy

MODY1 and MODY3 represent rare causes of diabetes in pregnancy. Establishing a molecular diagnosis of MODY1 or MODY3 during pregnancy may be important for minimizing risk of perinatal complications and for improving glycemic control after pregnancy. The objective of the study was to evaluate the con...

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Autores principales:	Natalia A. Zubkova, Fatima F. Burumkulova, Vasily A. Petrukhin, Margarita A. Plechanova, Anton E. Panov, Evgeny V. Vasilyev, Vasily M. Petrov, Nina A. Makretskaya, Anatoliy N. Tyulpakov
Formato:	article
Lenguaje:	EN RU
Publicado:	Endocrinology Research Centre 2019
Materias:	diabetes in pregnancy hepatocyte nuclear factor 4-alpha hepatocyte nuclear factor 1-alpha diabetic fetopathy Nutritional diseases. Deficiency diseases RC620-627
Acceso en línea:	https://doaj.org/article/e0311204822549d6a1dc1c0e345dbe75
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spelling	oai:doaj.org-article:e0311204822549d6a1dc1c0e345dbe752021-11-14T09:00:22ZMutations in transcription factor as rare causes of diabetes in pregnancy2072-03512072-037810.14341/DM9945https://doaj.org/article/e0311204822549d6a1dc1c0e345dbe752019-08-01T00:00:00Zhttps://www.dia-endojournals.ru/jour/article/view/9945https://doaj.org/toc/2072-0351https://doaj.org/toc/2072-0378MODY1 and MODY3 represent rare causes of diabetes in pregnancy. Establishing a molecular diagnosis of MODY1 or MODY3 during pregnancy may be important for minimizing risk of perinatal complications and for improving glycemic control after pregnancy. The objective of the study was to evaluate the contribution of mutations in HNF4A and HNF1A genes in development of diabetes in pregnancy and to describe clinical characteristics of diabetes in pregnancy associated with these mutations. 230 pregnant women (20-43 years) with different type of glucose intolerance complicated during their current pregnancy were included in the study. A custom NGS panel targeting 28 diabetes causative genes was used for sequencing. Heterozygous mutations in HNF4A and HNF1A genes were detected in 3% of cases. Mutations p.I271T in HNF4A gene and p.L148F, p.Y265C, p.G288W in HNF1A gene were novel. This study includes a description of patients with pregnancy diabetes due to mutations in hepatocyte nuclear factors.Natalia A. ZubkovaFatima F. BurumkulovaVasily A. PetrukhinMargarita A. PlechanovaAnton E. PanovEvgeny V. VasilyevVasily M. PetrovNina A. MakretskayaAnatoliy N. TyulpakovEndocrinology Research Centrearticlediabetes in pregnancyhepatocyte nuclear factor 4-alphahepatocyte nuclear factor 1-alphadiabetic fetopathyNutritional diseases. Deficiency diseasesRC620-627ENRUСахарный диабет, Vol 22, Iss 3, Pp 274-280 (2019)
institution	DOAJ
collection	DOAJ
language	EN RU
topic	diabetes in pregnancy hepatocyte nuclear factor 4-alpha hepatocyte nuclear factor 1-alpha diabetic fetopathy Nutritional diseases. Deficiency diseases RC620-627
spellingShingle	diabetes in pregnancy hepatocyte nuclear factor 4-alpha hepatocyte nuclear factor 1-alpha diabetic fetopathy Nutritional diseases. Deficiency diseases RC620-627 Natalia A. Zubkova Fatima F. Burumkulova Vasily A. Petrukhin Margarita A. Plechanova Anton E. Panov Evgeny V. Vasilyev Vasily M. Petrov Nina A. Makretskaya Anatoliy N. Tyulpakov Mutations in transcription factor as rare causes of diabetes in pregnancy
description	MODY1 and MODY3 represent rare causes of diabetes in pregnancy. Establishing a molecular diagnosis of MODY1 or MODY3 during pregnancy may be important for minimizing risk of perinatal complications and for improving glycemic control after pregnancy. The objective of the study was to evaluate the contribution of mutations in HNF4A and HNF1A genes in development of diabetes in pregnancy and to describe clinical characteristics of diabetes in pregnancy associated with these mutations. 230 pregnant women (20-43 years) with different type of glucose intolerance complicated during their current pregnancy were included in the study. A custom NGS panel targeting 28 diabetes causative genes was used for sequencing. Heterozygous mutations in HNF4A and HNF1A genes were detected in 3% of cases. Mutations p.I271T in HNF4A gene and p.L148F, p.Y265C, p.G288W in HNF1A gene were novel. This study includes a description of patients with pregnancy diabetes due to mutations in hepatocyte nuclear factors.
format	article
author	Natalia A. Zubkova Fatima F. Burumkulova Vasily A. Petrukhin Margarita A. Plechanova Anton E. Panov Evgeny V. Vasilyev Vasily M. Petrov Nina A. Makretskaya Anatoliy N. Tyulpakov
author_facet	Natalia A. Zubkova Fatima F. Burumkulova Vasily A. Petrukhin Margarita A. Plechanova Anton E. Panov Evgeny V. Vasilyev Vasily M. Petrov Nina A. Makretskaya Anatoliy N. Tyulpakov
author_sort	Natalia A. Zubkova
title	Mutations in transcription factor as rare causes of diabetes in pregnancy
title_short	Mutations in transcription factor as rare causes of diabetes in pregnancy
title_full	Mutations in transcription factor as rare causes of diabetes in pregnancy
title_fullStr	Mutations in transcription factor as rare causes of diabetes in pregnancy
title_full_unstemmed	Mutations in transcription factor as rare causes of diabetes in pregnancy
title_sort	mutations in transcription factor as rare causes of diabetes in pregnancy
publisher	Endocrinology Research Centre
publishDate	2019
url	https://doaj.org/article/e0311204822549d6a1dc1c0e345dbe75
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Mutations in transcription factor as rare causes of diabetes in pregnancy

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