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

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Giuffrida, Fernando de Mello Almada [UNIFESP]
Moises, Regina Celia Mello Santiago [UNIFESP]
Weinert, Leticia S.
Calliari, Luis E.
Della Manna, Thais
Dotto, Renata Pires [UNIFESP]
Franco, Luciana Ferreira [UNIFESP]
Caetano, Lilian A.
Teles, Milena G.
Lima, Renata Andrade
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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 This study aims to establish a national registry of MODY cases in Brazilian patients, assessing published and unpublished data. Methods: 311 patients with clinical characteristics of MODY were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report.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 One previously unpublished novel GCK mutation, Gly178Ala, was found in one family. 31 individuals had HNF1A mutations, 2 described for the first time in Brazilian individuals.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.
Diabetes Research And Clinical Practice. Clare, v. 123, p. 134-142, 2017.