Klippel-Trenaunay and Sturge-Weber Overlap Syndrome with KRAS and GNAQ mutations.
Journal
Annals of clinical and translational neurology
ISSN: 2328-9503
Titre abrégé: Ann Clin Transl Neurol
Pays: United States
ID NLM: 101623278
Informations de publication
Date de publication:
07 2020
07 2020
Historique:
received:
06
03
2020
revised:
24
05
2020
accepted:
26
05
2020
pubmed:
3
7
2020
medline:
23
7
2021
entrez:
3
7
2020
Statut:
ppublish
Résumé
Patients with combined phenotypes of Sturge-Weber syndrome and Klippel-Trenaunay syndrome have been reported, though the underlying genetic spectrum in these individuals remains to be elucidated. We reported the patient presenting with Klippel-Trenaunay and Sturge-Weber overlap syndrome in mainland China. Histopathologic study confirmed the hemangioma of vein and capillary. Co-existence of a novel somatic KRAS c.182_183 delins TC mutation and GNAQ c.548G>A mutation was identified in the affected skin tissue rather than paired peripheral blood. The somatic mutations of GNAQ and KRAS may affect MAPK-ERK signaling pathway, resulting in endothelial anomaly and blood vessel malformation.
Identifiants
pubmed: 32613723
doi: 10.1002/acn3.51106
pmc: PMC7359123
doi:
Substances chimiques
GNAQ protein, human
0
KRAS protein, human
0
GTP-Binding Protein alpha Subunits, Gq-G11
EC 3.6.5.1
Proto-Oncogene Proteins p21(ras)
EC 3.6.5.2
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1258-1264Informations de copyright
© 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
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