Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil

Monogenic forms of diabetes mellitus may affect a significant number of patients of this disease, and it is an important molecular cause to be investigated. However, studies of the genetic causes of monogenic diabetes, especially in populations with mixed ethnic backgrounds, such as the one in Brazi...

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Published in:	Frontiers in endocrinology (Lausanne) Vol. 13; p. 827325
Main Authors:	Abreu, Gabriella de Medeiros, Tarantino, Roberta Magalhães, da Fonseca, Ana Carolina Proença, Andrade, Juliana Rosa Ferreira de Oliveira, de Souza, Ritiele Bastos, Soares, Camila de Almeida Pereira Dias, Cambraia, Amanda, Cabello, Pedro Hernan, Rodacki, Melanie, Zajdenverg, Lenita, Zembrzuski, Verônica Marques, Campos Junior, Mário
Format:	Journal Article
Language:	English
Published:	Switzerland Frontiers Media S.A 03-05-2022
Subjects:	Endocrinology genetic diagnosis mitochondrial disease MODY monogenic diabetes rare disorders variants genetic diagnosis MODY variants monogenic diabetes rare disorders mitochondrial disease
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Summary:	Monogenic forms of diabetes mellitus may affect a significant number of patients of this disease, and it is an important molecular cause to be investigated. However, studies of the genetic causes of monogenic diabetes, especially in populations with mixed ethnic backgrounds, such as the one in Brazil, are scarce. The aim of this study was to screen several genes associated with monogenic diabetes in fifty-seven Brazilian patients with recurrence of the disease in their families and thirty-four relatives. Inclusion criteria were: Age of onset ≤ 40 years old, BMI < 30 kg/m², at least two affected generations and negative anti-GAD and anti-IA2 antibodies. MODY genes , , , , , , , , , and were sequenced by Sanger sequencing. We identified a total of 20 patients with variants, 13 GCK-MODY, four HNF1A-MODY, and one variant in each of the following genes, , and . Segregation analysis was performed in 13 families. Four variants were novel, two in (p.(Met115Val) [c.343A>G] and p.(Asp365GlufsTer95) [c.1094_1095insGCGA]) and two in (p.(Tyr163Ter) [c.489C>G] and p.(Val380CysfsTer39) [c.1136_1137insC]). Here we highlight the importance of screening for monogenic diabetes in admixed populations.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Edited by: Jiajun Zhao, Shandong Provincial Hospital, China This article was submitted to Clinical Diabetes, a section of the journal Frontiers in Endocrinology Reviewed by: Rochelle Naylor, The University of Chicago, United States; Barbara Zapała, Jagiellonian University, Poland
ISSN:	1664-2392 1664-2392
DOI:	10.3389/fendo.2022.827325