Dataset Information
The first case of NEUROD1-MODY reported in Latin America.
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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
Publications
The first case of NEUROD1-MODY reported in Latin America.
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]
