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Klippel–Trenaunay and Sturge–Weber Overlap Syndrome with KRAS and GNAQ mutations
- Source :
- Annals of Clinical and Translational Neurology, Annals of Clinical and Translational Neurology, Vol 7, Iss 7, Pp 1258-1264 (2020)
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
Abstract
- 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.
- Subjects :
- Adult
Male
0301 basic medicine
Klippel-Trenaunay-Weber Syndrome
Pathology
medicine.medical_specialty
Somatic cell
Neurosciences. Biological psychiatry. Neuropsychiatry
Brief Communication
medicine.disease_cause
Proto-Oncogene Proteins p21(ras)
Hemangioma
Young Adult
03 medical and health sciences
0302 clinical medicine
Sturge-Weber Syndrome
Humans
Medicine
RC346-429
Mutation
business.industry
General Neuroscience
Overlap syndrome
medicine.disease
Phenotype
030104 developmental biology
medicine.anatomical_structure
GTP-Binding Protein alpha Subunits, Gq-G11
Neurology. Diseases of the nervous system
Neurology (clinical)
KRAS
Brief Communications
business
030217 neurology & neurosurgery
GNAQ
RC321-571
Blood vessel
Subjects
Details
- ISSN :
- 23289503
- Volume :
- 7
- Database :
- OpenAIRE
- Journal :
- Annals of Clinical and Translational Neurology
- Accession number :
- edsair.doi.dedup.....180eba4cfd6c601e8c1c1dc3701fc1ef