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The first case of NEUROD1‐MODY reported in Latin America
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The first case of NEUROD1‐MODY reported in Latin America
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Journal Article
The first case of NEUROD1‐MODY reported in Latin America
2019
Overview
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. In the present study, one novel frameshift deletion (p.Phe256Leufs*2) was identified in NEUROD1 segregating in a diabetic family. This is the first case of MODY‐NEUROD1 reported in Latin America.
Publisher
John Wiley & Sons, Inc,John Wiley and Sons Inc,Wiley
Subject
/ Age
/ Autosomal dominant inheritance
/ Basic Helix-Loop-Helix Transcription Factors - genetics
/ Basic Helix-Loop-Helix Transcription Factors - metabolism
/ Diabetes
/ Diabetes Mellitus, Type 2 - genetics
/ Diabetes Mellitus, Type 2 - metabolism
/ DNA
/ Family
/ Female
/ Females
/ Frameshift Mutation - genetics
/ Heredity
/ Humans
/ Latin America - epidemiology
/ Male
/ MODY
/ MODY6
/ Mutation
/ NEUROD1
/ Original
/ Patients
/ Pedigree
/ Proteins
