Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil.
MODY
genetic diagnosis
mitochondrial disease
monogenic diabetes
rare disorders
variants
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2022
2022
Historique:
received:
01
12
2021
accepted:
24
03
2022
entrez:
20
5
2022
pubmed:
21
5
2022
medline:
24
5
2022
Statut:
epublish
Résumé
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
Identifiants
pubmed: 35592779
doi: 10.3389/fendo.2022.827325
pmc: PMC9110842
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
827325Informations de copyright
Copyright © 2022 Abreu, Tarantino, da Fonseca, Andrade, de Souza, Soares, Cambraia, Cabello, Rodacki, Zajdenverg, Zembrzuski and Campos Junior.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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