Novel insights into genetics and clinics of the HNF1A-MODY

MODY (Maturity Onset Diabetes of the Young) is a type of diabetes resulting from a pathogenic effect of gene mutations. Up to date, 13 MODY genes are known. Gene HNF1A is one of the most common causes of MODY diabetes (HNF1A-MODY; MODY3). This gene is polymorphic and more than 1200 pathogenic and no...

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Autores principales:	Valkovicova Terezia, Skopkova Martina, Stanik Juraj, Gasperikova Daniela
Formato:	article
Lenguaje:	EN
Publicado:	Sciendo 2019
Materias:	hnf1α mody diabetes insulin secretion clinics Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/65d808504f014460afc488ef56841486
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spelling	oai:doaj.org-article:65d808504f014460afc488ef568414862021-12-02T17:49:32ZNovel insights into genetics and clinics of the HNF1A-MODY1336-032910.2478/enr-2019-0013https://doaj.org/article/65d808504f014460afc488ef568414862019-04-01T00:00:00Zhttps://doi.org/10.2478/enr-2019-0013https://doaj.org/toc/1336-0329MODY (Maturity Onset Diabetes of the Young) is a type of diabetes resulting from a pathogenic effect of gene mutations. Up to date, 13 MODY genes are known. Gene HNF1A is one of the most common causes of MODY diabetes (HNF1A-MODY; MODY3). This gene is polymorphic and more than 1200 pathogenic and non-pathogenic HNF1A variants were described in its UTRs, exons and introns. For HNF1A-MODY, not just gene but also phenotype heterogeneity is typical. Although there are some clinical instructions, HNF1A-MODY patients often do not meet every diagnostic criteria or they are still misdiagnosed as type 1 and type 2 diabetics. There is a constant effort to find suitable biomarkers to help with in distinguishing of MODY3 from Type 1 Diabetes (T1D) and Type 2 Diabetes (T2D). DNA sequencing is still necessary for unambiguous confirmation of clinical suspicion of MODY. NGS (Next Generation Sequencing) methods brought discoveries of multiple new gene variants and new instructions for their pathogenicity classification were required. The most actual problem is classification of variants with uncertain significance (VUS) which is a stumbling-block for clinical interpretation. Since MODY is a hereditary disease, DNA analysis of family members is helpful or even crucial. This review is updated summary about HNF1A-MODY genetics, pathophysiology, clinics functional studies and variant classification.Valkovicova TereziaSkopkova MartinaStanik JurajGasperikova DanielaSciendoarticlehnf1αmodydiabetesinsulin secretionclinicsDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENEndocrine Regulations, Vol 53, Iss 2, Pp 110-134 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	hnf1α mody diabetes insulin secretion clinics Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	hnf1α mody diabetes insulin secretion clinics Diseases of the endocrine glands. Clinical endocrinology RC648-665 Valkovicova Terezia Skopkova Martina Stanik Juraj Gasperikova Daniela Novel insights into genetics and clinics of the HNF1A-MODY
description	MODY (Maturity Onset Diabetes of the Young) is a type of diabetes resulting from a pathogenic effect of gene mutations. Up to date, 13 MODY genes are known. Gene HNF1A is one of the most common causes of MODY diabetes (HNF1A-MODY; MODY3). This gene is polymorphic and more than 1200 pathogenic and non-pathogenic HNF1A variants were described in its UTRs, exons and introns. For HNF1A-MODY, not just gene but also phenotype heterogeneity is typical. Although there are some clinical instructions, HNF1A-MODY patients often do not meet every diagnostic criteria or they are still misdiagnosed as type 1 and type 2 diabetics. There is a constant effort to find suitable biomarkers to help with in distinguishing of MODY3 from Type 1 Diabetes (T1D) and Type 2 Diabetes (T2D). DNA sequencing is still necessary for unambiguous confirmation of clinical suspicion of MODY. NGS (Next Generation Sequencing) methods brought discoveries of multiple new gene variants and new instructions for their pathogenicity classification were required. The most actual problem is classification of variants with uncertain significance (VUS) which is a stumbling-block for clinical interpretation. Since MODY is a hereditary disease, DNA analysis of family members is helpful or even crucial. This review is updated summary about HNF1A-MODY genetics, pathophysiology, clinics functional studies and variant classification.
format	article
author	Valkovicova Terezia Skopkova Martina Stanik Juraj Gasperikova Daniela
author_facet	Valkovicova Terezia Skopkova Martina Stanik Juraj Gasperikova Daniela
author_sort	Valkovicova Terezia
title	Novel insights into genetics and clinics of the HNF1A-MODY
title_short	Novel insights into genetics and clinics of the HNF1A-MODY
title_full	Novel insights into genetics and clinics of the HNF1A-MODY
title_fullStr	Novel insights into genetics and clinics of the HNF1A-MODY
title_full_unstemmed	Novel insights into genetics and clinics of the HNF1A-MODY
title_sort	novel insights into genetics and clinics of the hnf1a-mody
publisher	Sciendo
publishDate	2019
url	https://doaj.org/article/65d808504f014460afc488ef56841486
work_keys_str_mv	AT valkovicovaterezia novelinsightsintogeneticsandclinicsofthehnf1amody AT skopkovamartina novelinsightsintogeneticsandclinicsofthehnf1amody AT stanikjuraj novelinsightsintogeneticsandclinicsofthehnf1amody AT gasperikovadaniela novelinsightsintogeneticsandclinicsofthehnf1amody
_version_	1718379412185939968

Novel insights into genetics and clinics of the HNF1A-MODY

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