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Semin Pediatr Surg. 2014 Aug;23(4):221-6. doi: 10.1053/j.sempedsurg.2014.06.014. Epub 2014 Jun 19.

Genetics of vascular malformations.

Author information

1
Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium. Electronic address: ha-long.nguyen@uclouvain.be.
2
Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.
3
Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Walloon Excellence in Lifesciences and Biotechnology (WELBIO), de Duve Institute, Université catholique de Louvain, Brussels, Belgium.

Abstract

Vascular anomalies are developmental defects of the vasculature and encompass a variety of disorders. The majority of these occur sporadically, yet a few are reported to be familial. The identification of genes mutated in the different malformations provides insight into their etiopathogenic mechanisms and the specific roles the associated proteins play in vascular development and maintenance. It is becoming evident that somatic mosaicism plays a major role in the formation of vascular lesions. The importance of utilizing Next-Generating Sequencing (NGS) for high-throughput and "deep" screening of both blood and lesional DNA and RNA is thus emphasized, as the somatic changes are present in low quantities. There are several examples where NGS has already accomplished discovering these changes. The identification of all the causative genes and unraveling of a holistic overview of the pathogenic mechanisms should enable generation of in vitro and in vivo models and lead to development of more effective treatments, not only targeted on symptoms.

KEYWORDS:

Familial; Genetics of vascular malformations; Somatic mosaicism; Sporadic

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