Cancer-causing MAP2K1 mutation in a mosaic patient with cardio-facio-cutaneous syndrome and immunodeficiency.
MAP2K1
RASopathies
cardio-facio-cutaneous syndrome
immunodeficiency
somatic mosaicism
Journal
Human mutation
ISSN: 1098-1004
Titre abrégé: Hum Mutat
Pays: United States
ID NLM: 9215429
Informations de publication
Date de publication:
12 2022
12 2022
Historique:
revised:
24
08
2022
received:
09
06
2022
accepted:
30
08
2022
pubmed:
3
9
2022
medline:
15
12
2022
entrez:
2
9
2022
Statut:
ppublish
Résumé
RASopathies are disorders caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. These syndromes share features of developmental delay, facial dysmorphisms, and defects in various organs, as well as cancer predisposition. Somatic mutations of the same pathway are one of the primary causes of cancer. It is thought that germline cancer-causing mutations would be embryonic lethal, as a more severe phenotype was shown in Drosophila and zebrafish embryos with cancer MAP2K1 mutations than in those with RASopathy mutations. Here we report the case of a patient with RASopathy caused by a cancer-associated MAP2K1 p.Phe53Leu mutation. The postzygotic mosaic nature of this mutation could explain the patient's survival.
Substances chimiques
MAP2K1 protein, human
EC 2.7.12.2
MAP Kinase Kinase 1
EC 2.7.12.2
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1852-1855Informations de copyright
© 2022 Wiley Periodicals LLC.
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