PDX1-MODY: A rare missense mutation as a cause of monogenic diabetes.
Diabetes mellitus
MODY
MODY4
Monogenic diabetes
Mutation
PDX1
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
received:
26
08
2020
revised:
04
03
2021
accepted:
14
03
2021
pubmed:
23
3
2021
medline:
4
8
2021
entrez:
22
3
2021
Statut:
ppublish
Résumé
Maturity-Onset Diabetes of the Young type 4 is a rare form of diabetes mellitus, caused by mutations in the PDX1 gene. However, only a few mutations in this gene have been associated as a cause of monogenic diabetes up to date. It makes difficult to create a clinical manifestation profile of this disease and, consequently, to improve the therapeutic management for these patients. Here we report a normal weight woman, diagnosed with diabetes mellitus at 27 years old, during her first pregnancy. At the time of the recruitment, she was 40 years old and had a body mass index of 23.9 kg/m
Identifiants
pubmed: 33746035
pii: S1769-7212(21)00060-4
doi: 10.1016/j.ejmg.2021.104194
pii:
doi:
Substances chimiques
Homeodomain Proteins
0
Trans-Activators
0
pancreatic and duodenal homeobox 1 protein
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
104194Informations de copyright
Copyright © 2021 Elsevier Masson SAS. All rights reserved.