Identification of the First PAX4-MODY Family Reported in Brazil

Detalhes bibliográficos
Autor(a) principal: Abreu, Gabriella de Medeiros
Data de Publicação: 2020
Outros Autores: Soares, Camila de Almeida Pereira Dias, Tarantino, Roberta Magalhães, Fonseca, Ana Carolina Proença da, Souza, Ritiele Bastos de, Pereira, Maria de Fátima Carvalho, Cabello, Pedro Hernan, Rodacki, Melanie, Zajdenverg, Lenita, Zembrzuski, Verônica Marques, Campos Junior, Mário
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/44855
Resumo: Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.
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spelling Abreu, Gabriella de MedeirosSoares, Camila de Almeida Pereira DiasTarantino, Roberta MagalhãesFonseca, Ana Carolina Proença daSouza, Ritiele Bastos dePereira, Maria de Fátima CarvalhoCabello, Pedro HernanRodacki, MelanieZajdenverg, LenitaZembrzuski, Verônica MarquesCampos Junior, Mário2020-12-11T19:25:05Z2020-12-11T19:25:05Z2020ABREU, Gabriella de Medeiros et al. Identification of the First PAX4-MODY family reported in Brazil. Diabetes, Syndrome and Obesity: Targets and Therapy, v. 13, p. 2623-2631, 2020.1178-7007https://www.arca.fiocruz.br/handle/icict/4485510.2147/DMSO.S256858engDovepressDiabetes mellitusDiabetes monogênicaPAX4MODYMutaçãoDiabetes mellitusMonogenic diabetesPAX4MODYMutationIdentification of the First PAX4-MODY Family Reported in Brazilinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Departamento de Medicina Interna. Seção de Diabetes e Nutrologia. Rio de Janeiro, RJ, Brasil / Instituto Estadual de Diabetes e Endocrinologia Luiz Caproglione. Ambulatório de Diabetes. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Departamento de Patologia Clínica. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade do Grande Rio. Escola de Ciência da Saúde. Laboratório de Genética. Rio de Janeiro, Brasil.Universidade Federal do Rio de Janeiro. Departamento de Medicina Interna. Seção de Diabetes e Nutrologia. Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Departamento de Medicina Interna. Seção de Diabetes e Nutrologia. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, BrasilFundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, BrasilPurpose: The aim of this study was to sequence the coding region of the PAX4 gene in a Brazilian cohort with clinical manifestations of monogenic diabetes. Patients and Methods: This study included 31 patients with autosomal dominant history of diabetes, age at diagnosis ≤ 40 years, BMI < 30 kg/m2, and no mutations in GCK or HNF1A, HNF4A, and HNF1B. Screening of the PAX4 coding region was performed by Sanger sequencing. In silico algorithms were used to assess the potential impact of amino acid substitutions on protein structure and function. Additionally, PAX4-MODY family members and 158 control subjects without diabetes were analyzed for the identified mutation. Results: The molecular analysis of PAX4 has detected one missense mutation, p.Arg164Gln (c.491G>A), segregating with diabetes in a large Brazilian family. The mutation was absent among the control group. The index case is a woman diagnosed at 32 years of age with polyneuropathy and treated with insulin. She did not present diabetic renal disease or retinopathy. Family members with the PAX4 p.Arg164Gln mutation have a heterogeneous clinical manifestation and treatment response, with age at diagnosis ranging from 24 years to 50 years. Conclusion: To the best of our knowledge, this is the first study to report a PAX4-MODY family in Brazil. The age of PAX4-MODY diagnosis in the Brazilian family seems to be higher than the classical criteria for MODY. Our results reinforce the importance of screening large monogenic diabetes families for the understanding of the clinical manifestations of rare forms of diabetes for the specific and personalized treatment.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/44855/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALPedroHernan_Cabello_etal_IOC_2019.pdfPedroHernan_Cabello_etal_IOC_2019.pdfapplication/pdf1510092https://www.arca.fiocruz.br/bitstream/icict/44855/2/PedroHernan_Cabello_etal_IOC_2019.pdf5dfff917246ed9a9af3fd641dfc3fe2fMD52TEXTPedroHernan_Cabello_etal_IOC_2019.pdf.txtPedroHernan_Cabello_etal_IOC_2019.pdf.txtExtracted texttext/plain38671https://www.arca.fiocruz.br/bitstream/icict/44855/3/PedroHernan_Cabello_etal_IOC_2019.pdf.txtc0e03964a00a20ab3d2f2c09d4534a79MD53icict/448552021-03-05 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dc.title.pt_BR.fl_str_mv Identification of the First PAX4-MODY Family Reported in Brazil
title Identification of the First PAX4-MODY Family Reported in Brazil
spellingShingle Identification of the First PAX4-MODY Family Reported in Brazil
Abreu, Gabriella de Medeiros
Diabetes mellitus
Diabetes monogênica
PAX4
MODY
Mutação
Diabetes mellitus
Monogenic diabetes
PAX4
MODY
Mutation
title_short Identification of the First PAX4-MODY Family Reported in Brazil
title_full Identification of the First PAX4-MODY Family Reported in Brazil
title_fullStr Identification of the First PAX4-MODY Family Reported in Brazil
title_full_unstemmed Identification of the First PAX4-MODY Family Reported in Brazil
title_sort Identification of the First PAX4-MODY Family Reported in Brazil
author Abreu, Gabriella de Medeiros
author_facet Abreu, Gabriella de Medeiros
Soares, Camila de Almeida Pereira Dias
Tarantino, Roberta Magalhães
Fonseca, Ana Carolina Proença da
Souza, Ritiele Bastos de
Pereira, Maria de Fátima Carvalho
Cabello, Pedro Hernan
Rodacki, Melanie
Zajdenverg, Lenita
Zembrzuski, Verônica Marques
Campos Junior, Mário
author_role author
author2 Soares, Camila de Almeida Pereira Dias
Tarantino, Roberta Magalhães
Fonseca, Ana Carolina Proença da
Souza, Ritiele Bastos de
Pereira, Maria de Fátima Carvalho
Cabello, Pedro Hernan
Rodacki, Melanie
Zajdenverg, Lenita
Zembrzuski, Verônica Marques
Campos Junior, Mário
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Abreu, Gabriella de Medeiros
Soares, Camila de Almeida Pereira Dias
Tarantino, Roberta Magalhães
Fonseca, Ana Carolina Proença da
Souza, Ritiele Bastos de
Pereira, Maria de Fátima Carvalho
Cabello, Pedro Hernan
Rodacki, Melanie
Zajdenverg, Lenita
Zembrzuski, Verônica Marques
Campos Junior, Mário
dc.subject.other.pt_BR.fl_str_mv Diabetes mellitus
Diabetes monogênica
PAX4
MODY
Mutação
topic Diabetes mellitus
Diabetes monogênica
PAX4
MODY
Mutação
Diabetes mellitus
Monogenic diabetes
PAX4
MODY
Mutation
dc.subject.en.pt_BR.fl_str_mv Diabetes mellitus
Monogenic diabetes
PAX4
MODY
Mutation
description Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil.
publishDate 2020
dc.date.accessioned.fl_str_mv 2020-12-11T19:25:05Z
dc.date.available.fl_str_mv 2020-12-11T19:25:05Z
dc.date.issued.fl_str_mv 2020
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.citation.fl_str_mv ABREU, Gabriella de Medeiros et al. Identification of the First PAX4-MODY family reported in Brazil. Diabetes, Syndrome and Obesity: Targets and Therapy, v. 13, p. 2623-2631, 2020.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/44855
dc.identifier.issn.pt_BR.fl_str_mv 1178-7007
dc.identifier.doi.none.fl_str_mv 10.2147/DMSO.S256858
identifier_str_mv ABREU, Gabriella de Medeiros et al. Identification of the First PAX4-MODY family reported in Brazil. Diabetes, Syndrome and Obesity: Targets and Therapy, v. 13, p. 2623-2631, 2020.
1178-7007
10.2147/DMSO.S256858
url https://www.arca.fiocruz.br/handle/icict/44855
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Dovepress
publisher.none.fl_str_mv Dovepress
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
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