Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
PIK3CA-related vascular malformation
Turner syndrome
lymphatic malformation
mosaicism
theragnostics
vascular malformation
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
13 Sep 2023
13 Sep 2023
Historique:
revised:
13
08
2023
received:
28
06
2023
accepted:
19
08
2023
medline:
14
9
2023
pubmed:
14
9
2023
entrez:
14
9
2023
Statut:
aheadofprint
Résumé
Turner syndrome (45,X) is caused by a complete or partial absence of a single X chromosome. Vascular malformations occur due to abnormal development of blood and/or lymphatic vessels. They arise from either somatic or germline pathogenic variants in the genes regulating growth and apoptosis of vascular channels. Aortic abnormalities are a common, known vascular anomaly of Turner syndrome. However, previous studies have described other vascular malformations as a rare feature of Turner syndrome and suggested that vascular abnormalities in individuals with Turner syndrome may be more generalized. In this study, we describe two individuals with co-occurrence of Turner syndrome and vascular malformations with a lymphatic component. In these individuals, genetic testing of the lesional tissue revealed a somatic pathogenic variant in PIK3CA-a known and common cause of lymphatic malformations. Based on this finding, we conclude that the vascular malformations presented here and likely those previously in the literature are not a rare part of the clinical spectrum of Turner syndrome, but rather a separate clinical entity that may or may not co-occur in individuals with Turner syndrome.
Identifiants
pubmed: 37705207
doi: 10.1002/ajmg.a.63385
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Children's Hospital of Philadelphia
Organisme : Eunice Kennedy Shriver National Institute of Child Health and Human Development
ID : HD009003-01
Informations de copyright
© 2023 Wiley Periodicals LLC. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.
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