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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dc.citation.volume123
dc.contributor.authorGiuffrida, Fernando de Mello Almada [UNIFESP]
dc.contributor.authorMoises, Regina Celia Mello Santiago [UNIFESP]
dc.contributor.authorWeinert, Leticia S.
dc.contributor.authorCalliari, Luis E.
dc.contributor.authorDella Manna, Thais
dc.contributor.authorDotto, Renata Pires [UNIFESP]
dc.contributor.authorFranco, Luciana Ferreira [UNIFESP]
dc.contributor.authorCaetano, Lilian A.
dc.contributor.authorTeles, Milena G.
dc.contributor.authorLima, Renata Andrade
dc.contributor.authorAlves, Cresio
dc.contributor.authorDib, Sergio Atala [UNIFESP]
dc.contributor.authorSilveiro, Sandra P.
dc.contributor.authorDias-da-Silva, Magnus Régios [UNIFESP]
dc.contributor.authorReis, André Fernandes [UNIFESP]
dc.coverageClare
dc.date.accessioned2020-07-31T12:46:46Z
dc.date.available2020-07-31T12:46:46Z
dc.date.issued2017
dc.description.abstractAims: 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 This study aims to establish a national registry of MODY cases in Brazilian patients, assessing published and unpublished data. Methods: 311 patients with clinical characteristics of MODY were analyzed, with unpublished data on 298 individuals described in 12 previous publications and 13 newly described cases in this report.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 One previously unpublished novel GCK mutation, Gly178Ala, was found in one family. 31 individuals had HNF1A mutations, 2 described for the first time in Brazilian individuals.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 yearsen
dc.description.abstractage at diagnosis 11 +/- 8 vs 21 +/- 7 yearsen
dc.description.abstractBMI 19 +/- 6 vs 25 +/- 6 kg/m(2)en
dc.description.abstractsulfonylurea users 5 vs 83%en
dc.description.abstractinsulin users 5 vs 17%en
dc.description.abstractpresence 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.en
dc.description.affiliationUniv Estado Bahia UNEB, Salvador, BA, Brazil
dc.description.affiliationUniv Fed Sao Paulo UNIFESP, Escola Paulista Med, Disciplina Endocrinol, R Estado Israel 639 Vila Mariana, BR-04022001 Sao Paulo, SP, Brazil
dc.description.affiliationUniv Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Endocrinol Unit, Porto Alegre, RS, Brazil
dc.description.affiliationFac Med Santa Casa Misericordia Sao Paulo, Sao Paulo, Brazil
dc.description.affiliationUniv Sao Paulo, Fac Med, Inst Crianca, Sao Paulo, Brazil
dc.description.affiliationUniv Sao Paulo, Sch Med, Genet Endocrinol Unit, Monogen Diabet Grp, Sao Paulo, Brazil
dc.description.affiliationUniv Sao Paulo, Sch Med, Diabet Unit, Sao Paulo, Brazil
dc.description.affiliationUniv Fed Bahia, Fac Med, Univ Hosp Prof Edgard Santos, Pediat Endocrinol Unit, Salvador, BA, Brazil
dc.description.affiliationUnifespDisciplina de Endocrinologia, Escola Paulista de Medicina, Universidade Federal de São Paulo (UNIFESP), R Estado Israel 639 Vila Mariana, BR-04022001 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipAFR
dc.description.sponsorshipIDFAPESP: 2015/05123-9
dc.format.extent134-142
dc.identifierhttp://dx.doi.org/10.1016/j.diabres.2016.10.017
dc.identifier.citationDiabetes Research And Clinical Practice. Clare, v. 123, p. 134-142, 2017.
dc.identifier.doi10.1016/j.diabres.2016.10.017
dc.identifier.issn0168-8227
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/56349
dc.identifier.wosWOS:000393944700016
dc.language.isoeng
dc.publisherElsevier Ireland Ltd
dc.relation.ispartofDiabetes Research And Clinical Practice
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectMODYen
dc.subjectDiabetes mellitusen
dc.subjectHNF1Aen
dc.subjectGlucokinaseen
dc.subjectMonogenic diabetesen
dc.titleMaturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical dataen
dc.typeinfo:eu-repo/semantics/article
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