- Meeting abstract
- Open Access
Clinical and molecular update of a large cohort followed by the Brazilian MODY multicenter study group (BRASMODY)
© de Mello Almada Giuffrida et al. 2015
- Published: 11 November 2015
- Classical Criterion
- Brazilian Patient
- Monogenic Form
- Multicenter Study Group
- Mild Hyperglycemia
Maturity-Onset Diabetes of the Young (MODY) is a group of monogenic forms of diabetes mellitus (DM) caused by mutations in at least 13 genes. Mutations in Glucokinase (GCK) and Hepatocyte nuclear factor-1 homeobox A (HNF1A) are the most common. Frequency of subtypes varies according to studied population. A broader view of MODY in Brazil is needed to improve diagnosis, epidemiological registry, and clinical care, also paving the way for future research.
To update HNF1A and GCK mutations found in Brazilian patients with MODY phenotype, comparing its clinical characteristics to patients with a MODY phenotype but no mutations.
Literature review of published MODY mutations in Brazilian individuals was conducted. Unpublished clinical data of patients with MODY phenotype (both with/without mutations) were obtained directly from BRASMODY authors.
MODY mutations in Brazilian individuals show clinical distinction among different subtypes of monogenic DM, mainly between GCK and other MODY types. Mild non-progressive hyperglycemia was an adequate screening tool for GCK mutations. Given the low positivity rate of HNF1A mutations, new recruitment strategies are needed. Although rare, other monogenic forms of DM types should be investigated in this subgroup of patients without GCK/HNF1A mutations.
This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.