Case Report: Neonatal Diabetes Mellitus Caused by a Novel
Biomarkers
/ blood
Blood Glucose
/ analysis
Child, Preschool
Congenital Hypothyroidism
/ etiology
DNA-Binding Proteins
/ genetics
Diabetes Mellitus
/ etiology
Female
Gene Expression Regulation
Humans
Infant, Newborn
Infant, Newborn, Diseases
/ etiology
Male
Mutation
Phenotype
Prognosis
Repressor Proteins
/ genetics
Trans-Activators
/ genetics
GLIS3 mutation
congenital glaucoma
congenital hypothyroidism
neonatal diabetes
β-cell development
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2021
2021
Historique:
received:
28
02
2021
accepted:
29
04
2021
entrez:
7
6
2021
pubmed:
8
6
2021
medline:
21
12
2021
Statut:
epublish
Résumé
Mutations in We describe non-identical twins born to consanguineous parents presenting with NDM, congenital hypothyroidism, congenital glaucoma, hepatic cholestasis, cystic kidney and delayed psychomotor development. Sequence analysis of This report highlights the importance of early molecular diagnosis for appropriate management of NDM. We describe a novel nonsense mutation of
Sections du résumé
Background
Mutations in
Cases
We describe non-identical twins born to consanguineous parents presenting with NDM, congenital hypothyroidism, congenital glaucoma, hepatic cholestasis, cystic kidney and delayed psychomotor development. Sequence analysis of
Conclusions
This report highlights the importance of early molecular diagnosis for appropriate management of NDM. We describe a novel nonsense mutation of
Identifiants
pubmed: 34093443
doi: 10.3389/fendo.2021.673755
pmc: PMC8169976
doi:
Substances chimiques
Biomarkers
0
Blood Glucose
0
DNA-Binding Proteins
0
GLIS3 protein, human
0
Repressor Proteins
0
Trans-Activators
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
673755Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Informations de copyright
Copyright © 2021 London, De Franco, Elias-Assad, Barhoum, Felszer, Paniakov, Weiner and Tenenbaum-Rakover.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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