Causal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review

Abstract Background Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant type of diabetes. Pathogenic variants in fourteen genes are reported as causes of MODY. Its symptoms overlap with type 1 and type 2 diabetes. Reviews for clinical characteristics, diagnosis and treatments are av...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Ibrar Rafique, Asif Mir, Muhammad Arif Nadeem Saqib, Muhammad Naeem, Luc Marchand, Constantin Polychronakos
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Causal variants MODY Diabetes Genetics Diseases of the endocrine glands. Clinical endocrinology RC648-665
Acceso en línea:	https://doaj.org/article/89d9c2ea7205409caccbd8aa9c15f46c
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:89d9c2ea7205409caccbd8aa9c15f46c
record_format	dspace
spelling	oai:doaj.org-article:89d9c2ea7205409caccbd8aa9c15f46c2021-11-14T12:05:30ZCausal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review10.1186/s12902-021-00891-71472-6823https://doaj.org/article/89d9c2ea7205409caccbd8aa9c15f46c2021-11-01T00:00:00Zhttps://doi.org/10.1186/s12902-021-00891-7https://doaj.org/toc/1472-6823Abstract Background Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant type of diabetes. Pathogenic variants in fourteen genes are reported as causes of MODY. Its symptoms overlap with type 1 and type 2 diabetes. Reviews for clinical characteristics, diagnosis and treatments are available but a comprehensive list of genetic variants, is lacking. Therefore this study was designed to collect all the causal variants involved in MODY, reported to date. Methods We searched PubMed from its date of inception to December 2019. The search terms we used included disease names and name of all the known genes involved. The ClinVar database was also searched for causal variants in the known 14 MODY genes. Results The record revealed 1647 studies and among them, 326 studies were accessed for full-text. Finally, 239 studies were included, as per our inclusion criteria. A total of 1017 variants were identified through literature review and 74 unpublished variants from Clinvar database. The gene most commonly affected was GCK, followed by HNF1a. The traditional Sanger sequencing was used in 76 % of the cases and 65 % of the studies were conducted in last 10 years. Variants from countries like Jordan, Oman and Tunisia reported that the MODY types prevalent worldwide were not common in their countries. Conclusions We expect that this paper will help clinicians interpret MODY genetics results with greater confidence. Discrepancies in certain middle-eastern countries need to be investigated as other genes or factors, like consanguinity may be involved in developing diabetes.Ibrar RafiqueAsif MirMuhammad Arif Nadeem SaqibMuhammad NaeemLuc MarchandConstantin PolychronakosBMCarticleCausal variantsMODYDiabetesGeneticsDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENBMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-6 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Causal variants MODY Diabetes Genetics Diseases of the endocrine glands. Clinical endocrinology RC648-665
spellingShingle	Causal variants MODY Diabetes Genetics Diseases of the endocrine glands. Clinical endocrinology RC648-665 Ibrar Rafique Asif Mir Muhammad Arif Nadeem Saqib Muhammad Naeem Luc Marchand Constantin Polychronakos Causal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review
description	Abstract Background Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant type of diabetes. Pathogenic variants in fourteen genes are reported as causes of MODY. Its symptoms overlap with type 1 and type 2 diabetes. Reviews for clinical characteristics, diagnosis and treatments are available but a comprehensive list of genetic variants, is lacking. Therefore this study was designed to collect all the causal variants involved in MODY, reported to date. Methods We searched PubMed from its date of inception to December 2019. The search terms we used included disease names and name of all the known genes involved. The ClinVar database was also searched for causal variants in the known 14 MODY genes. Results The record revealed 1647 studies and among them, 326 studies were accessed for full-text. Finally, 239 studies were included, as per our inclusion criteria. A total of 1017 variants were identified through literature review and 74 unpublished variants from Clinvar database. The gene most commonly affected was GCK, followed by HNF1a. The traditional Sanger sequencing was used in 76 % of the cases and 65 % of the studies were conducted in last 10 years. Variants from countries like Jordan, Oman and Tunisia reported that the MODY types prevalent worldwide were not common in their countries. Conclusions We expect that this paper will help clinicians interpret MODY genetics results with greater confidence. Discrepancies in certain middle-eastern countries need to be investigated as other genes or factors, like consanguinity may be involved in developing diabetes.
format	article
author	Ibrar Rafique Asif Mir Muhammad Arif Nadeem Saqib Muhammad Naeem Luc Marchand Constantin Polychronakos
author_facet	Ibrar Rafique Asif Mir Muhammad Arif Nadeem Saqib Muhammad Naeem Luc Marchand Constantin Polychronakos
author_sort	Ibrar Rafique
title	Causal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review
title_short	Causal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review
title_full	Causal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review
title_fullStr	Causal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review
title_full_unstemmed	Causal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review
title_sort	causal variants in maturity onset diabetes of the young (mody) – a systematic review
publisher	BMC
publishDate	2021
url	https://doaj.org/article/89d9c2ea7205409caccbd8aa9c15f46c
work_keys_str_mv	AT ibrarrafique causalvariantsinmaturityonsetdiabetesoftheyoungmodyasystematicreview AT asifmir causalvariantsinmaturityonsetdiabetesoftheyoungmodyasystematicreview AT muhammadarifnadeemsaqib causalvariantsinmaturityonsetdiabetesoftheyoungmodyasystematicreview AT muhammadnaeem causalvariantsinmaturityonsetdiabetesoftheyoungmodyasystematicreview AT lucmarchand causalvariantsinmaturityonsetdiabetesoftheyoungmodyasystematicreview AT constantinpolychronakos causalvariantsinmaturityonsetdiabetesoftheyoungmodyasystematicreview
_version_	1718429475015753728

Causal variants in Maturity Onset Diabetes of the Young (MODY) – A systematic review

Ejemplares similares