Genetic heterogeneity of overgrowth and vascular malformation syndromes

Abstract

Overgrowth and vascular malformations syndromes are associated with somatic variants arising during embryogenesis in cell proliferation and angiogenesis genes. The broad phenotypic heterogeneity of these syndromes complicates clinical diagnosis, making molecular genetic testing crucial for establishing a definitive diagnosis. In this study, deep NGS sequencing of a targeted panel of genes associated with overgrowth syndromes and vascular malformations was performed in 160 patients. Pathogenic and likely pathogenic variants were identified in 91 patients (57%), with 53 PIK3CA variants (58%).