Author | Abreu, Gabriella de Medeiros | |
Author | Tarantino, Roberta Magalhães | |
Author | Cabello, Pedro Hernan | |
Author | Zembrzuski, Verônica Marques | |
Author | Fonseca, Ana Carolina Proença da | |
Author | Rodacki, Melanie | |
Author | Zajdenverg, Lenita | |
Author | Campos Junior, Mário | |
Access date | 2020-07-02T18:50:28Z | |
Available date | 2020-07-02T18:50:28Z | |
Document date | 2019 | |
Citation | ABREU, Gabriella de Medeiros et al. The first case of NEUROD1‐MODY reported in Latin America. Molecular Genetics & Genomic Medicine, v. 7, p. 1-6, 2019. | pt_BR |
ISSN | 2324-9269 | pt_BR |
URI | https://www.arca.fiocruz.br/handle/icict/42046 | |
Language | eng | pt_BR |
Publisher | Wiley | pt_BR |
Rights | open access | pt_BR |
Subject in Portuguese | NEUROD1 | pt_BR |
Subject in Portuguese | MODY | pt_BR |
Subject in Portuguese | Diabetes Mellitus | pt_BR |
Subject in Portuguese | MODY6 | pt_BR |
Subject in Portuguese | Diabetes monogênica | pt_BR |
Title | The first case of NEUROD1-MODY reported in Latin America | pt_BR |
Type | Article | pt_BR |
DOI | 10.1002/mgg3.989 | pt_BR |
Abstract | Background: MODY‐NEUROD1 is a rare form of monogenic diabetes caused by mutations in Neuronal differentiation 1 (NEUROD1). Until now, only a few cases of MODY‐NEUROD1 have been reported worldwide and the real contribution of mutations in NEUROD1 in monogenic diabetes and its clinical impact remain unclear. Methods: Genomic DNA was isolated from peripheral blood lymphocytes of 25 unrelated Brazilians patients with clinical characteristics suggestive of monogenic diabetes and the screening of the entire coding region of NEUROD1 was performed by Sanger sequencing. Results: We identified one novel frameshift deletion (p.Phe256Leufs*2) in NEUROD1 segregating in an autosomal dominant inheritance fashion. Almost 20 years after the first report of NEUROD1‐MODY, only a few families in Europe and Asia had shown mutations in NEUROD1 as the cause of monogenic diabetes. Conclusion: To our knowledge, we described the first case of NEUROD1‐MODY in a Latin American family. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | 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. Ambulatório de Diabetes. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil / Universidade Unigranrio. Escola de CIência da Saúde. Laboratório de Genética. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Universidade Federal do Rio de Janeiro. Departamento de Medicina Interna, Seção de Diabetes e Nutrologia. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Universidade Federal do Rio de Janeiro. Departamento de Medicina Interna, Seção de Diabetes e Nutrologia. Rio de Janeiro, RJ, Brasil. | pt_BR |
Affilliation | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Genética Humana. Rio de Janeiro, RJ, Brasil. | pt_BR |
Subject | Diabetes mellitus | pt_BR |
Subject | MODY | pt_BR |
Subject | MODY6 | pt_BR |
Subject | Monogenic diabete | pt_BR |
Subject | NEUROD1 | pt_BR |
Subject | Latin Amercia | pt_BR |