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The first case of NEUROD1-MODY reported in Latin America.

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.

SUBMITTER: Abreu GM

PROVIDER: S-EPMC6900366 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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The first case of NEUROD1-MODY reported in Latin America.

Abreu Gabriella de Medeiros GM Tarantino Roberta Magalhães RM Cabello Pedro Hernan PH Zembrzuski Verônica Marques VM da Fonseca Ana Carolina Proença ACP Rodacki Melanie M Zajdenverg Lenita L Campos Junior Mário M

Molecular genetics & genomic medicine 20191002 12

<h4>Background</h4>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.<h4>Methods</h4>Genomic DNA was isolated from peripheral blood lymphocytes of 25 unrelated Brazilians patients with clinical characteristics suggestive of monogenic diabetes and the scre ...[more]

PMID: 31578821

Dataset Information

The first case of NEUROD1-MODY reported in Latin America.

Publications

The first case of NEUROD1-MODY reported in Latin America.

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