Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data

Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data

Author Giuffrida, Fernando de Mello Almada Autor UNIFESP Google Scholar
Moises, Regina Celia Mello Santiago Autor UNIFESP Google Scholar
Weinert, Leticia S. Google Scholar
Calliari, Luis E. Google Scholar
Della Manna, Thais Google Scholar
Dotto, Renata Pires Autor UNIFESP Google Scholar
Franco, Luciana Ferreira Autor UNIFESP Google Scholar
Caetano, Lilian A. Google Scholar
Teles, Milena G. Google Scholar
Lima, Renata Andrade Google Scholar
Alves, Cresio Google Scholar
Dib, Sergio Atala Autor UNIFESP Google Scholar
Silveiro, Sandra P. Google Scholar
Dias-da-Silva, Magnus Régios Autor UNIFESP Google Scholar
Reis, André Fernandes Autor UNIFESP Google Scholar
Abstract Aims: Maturity-Onset Diabetes of the Young (MODY) comprises a heterogeneous group of monogenic forms of diabetes caused by mutations in at least 14 genes, but mostly by mutations in Glucokinase (GCK) and hepatocyte nuclear factor-1 homeobox A (HNF1A). This study aims to establish a national registry of MODY cases in Brazilian patients, assessing published and unpublished data. Methods: 311 patients with clinical characteristics of MODY were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report. Results: 72 individuals had GCK mutations, 9 described in Brazilian individuals for the first time. One previously unpublished novel GCK mutation, Gly178Ala, was found in one family. 31 individuals had HNF1A mutations, 2 described for the first time in Brazilian individuals. Comparisons of GCK probands vs HNF1A: age 16 +/- 11 vs 35 +/- 20 years

age at diagnosis 11 +/- 8 vs 21 +/- 7 years

BMI 19 +/- 6 vs 25 +/- 6 kg/m(2)

sulfonylurea users 5 vs 83%

insulin users 5 vs 17%

presence of arterial hypertension 0 vs. 33%, all p < 0.05. No differences were observed in lipids and C-peptide. Conclusions: Most MODY cases in Brazil are due to GCK mutations. In agreement with other studied populations, novel mutations are common. Only 14% of patients with familial diabetes carry a HNF1A mutation. Diagnosis of other rare forms of MODY is still a challenge in Brazilian population, as well as adequate strategies to screen individuals for molecular diagnosis. (C) 2016 Elsevier Ireland Ltd. All rights reserved.
Keywords MODY
Diabetes mellitus
HNF1A
Glucokinase
Monogenic diabetes
xmlui.dri2xhtml.METS-1.0.item-coverage Clare
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
AFR
Grant number FAPESP: 2015/05123-9
Date 2017
Published in Diabetes Research And Clinical Practice. Clare, v. 123, p. 134-142, 2017.
ISSN 0168-8227 (Sherpa/Romeo, impact factor)
Publisher Elsevier Ireland Ltd
Extent 134-142
Origin http://dx.doi.org/10.1016/j.diabres.2016.10.017
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000393944700016
URI https://repositorio.unifesp.br/handle/11600/56349

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