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The first case of NEUROD1‐MODY reported in Latin America

2019; Wiley; Volume: 7; Issue: 12 Linguagem: Inglês

10.1002/mgg3.989

2324-9269

Gabriella de Medeiros Abreu, Roberta Magalhães Tarantino, Pedro Hernán Cabello, Verônica Marques Zembrzuski, Ana Carolina Proença da Fonseca, Melanie Rodacki, Lenita Zajdenverg, Mário Campos,

Metabolism, Diabetes, and Cancer

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.