| Autor: |
Gabriella de Medeiros Abreu, Roberta Magalhães Tarantino, Pedro Hernan Cabello, Verônica Marques Zembrzuski, Ana Carolina Proença daFonseca, Melanie Rodacki, Lenita Zajdenverg, Mário Campos Junior |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
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| Zdroj: |
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019) |
| Druh dokumentu: |
article |
| ISSN: |
2324-9269 |
| DOI: |
10.1002/mgg3.989 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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