Genetic Dissection and Clinical Features of MODY6 (NEUROD1-MODY).
Intrauterine environment
MODY
NEUROD1
Neurological abnormalities
PNDM
β cell dysfunction
Journal
Current diabetes reports
ISSN: 1539-0829
Titre abrégé: Curr Diab Rep
Pays: United States
ID NLM: 101093791
Informations de publication
Date de publication:
22 02 2019
22 02 2019
Historique:
entrez:
23
2
2019
pubmed:
23
2
2019
medline:
4
12
2019
Statut:
epublish
Résumé
MODY6 due to mutations in the gene NEUROD1 is very rare, and details on its clinical manifestation and pathogenesis are scarce. In this review, we have summarized all reported cases of MODY6 diagnosed by genetic testing, and examined their clinical features in detail. MODY6 is a low penetrant MODY, suggesting that development of the disease is affected by genetic modifying factors, environmental factors, and/or the effects of interactions of genetic and environmental factors, as is the case with MODY5. Furthermore, while patients with MODY6 can usually achieve good glycemic control without insulin, when undiagnosed they are prone to become ketotic with chronic hyperglycemia, and microangiopathy can progress. MODY6 may also cause neurological abnormalities such as intellectual disability. MODY6 should be diagnosed early and definitively by genetic testing, so that the correct treatment can be started as soon as possible to prevent chronic hyperglycemia.
Identifiants
pubmed: 30793219
doi: 10.1007/s11892-019-1130-9
pii: 10.1007/s11892-019-1130-9
doi:
Substances chimiques
Basic Helix-Loop-Helix Transcription Factors
0
Nerve Tissue Proteins
0
Neurogenic differentiation factor 1
169238-82-8
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
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