The first case of NEUROD1-MODY reported in Latin America.
Adult
Basic Helix-Loop-Helix Transcription Factors
/ genetics
Brazil
/ epidemiology
Cross-Sectional Studies
Diabetes Mellitus, Type 2
/ genetics
Family
Female
Frameshift Mutation
/ genetics
Genetic Testing
/ methods
Genome, Human
/ genetics
Humans
Latin America
/ epidemiology
Male
Mutation
/ genetics
Pedigree
Sequence Analysis, DNA
/ methods
MODY
MODY6
NEUROD1
diabetes mellitus
monogenic diabetes
Journal
Molecular genetics & genomic medicine
ISSN: 2324-9269
Titre abrégé: Mol Genet Genomic Med
Pays: United States
ID NLM: 101603758
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
received:
29
04
2019
revised:
01
08
2019
accepted:
18
08
2019
pubmed:
4
10
2019
medline:
24
6
2020
entrez:
4
10
2019
Statut:
ppublish
Résumé
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. 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. 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. To our knowledge, we described the first case of NEUROD1-MODY in a Latin American family.
Sections du résumé
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.
Identifiants
pubmed: 31578821
doi: 10.1002/mgg3.989
pmc: PMC6900366
doi:
Substances chimiques
Basic Helix-Loop-Helix Transcription Factors
0
NEUROD1 protein, human
0
Types de publication
Case Reports
Journal Article
Observational Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e989Informations de copyright
© 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.
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