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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel–Trenaunay syndrome in an Asian population

Fig. 2

Distribution of frequent PIK3CA variants in PIK3CA-related overgrowth spectrum (PROS) [3, 6,7,8, 20, 24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46,47,48] and vascular malformations [6, 8, 42, 49,50,51,52,53,54,55] from the literature as well as our cohort (variants in PROS ≥ 5 patients in each variant). Right, variants found in patients with PROS (blue, n = 597) in the literature and Klippel–Trenaunay syndrome (KTS) in our cohort (orange, n = 12). Left, variants found in patients with vascular malformations except PROS (green, n = 300) in the literature. ABD, p85α-binding domain; RBD, Ras-binding domain; C2, C2 domain; Helical, helical domain; Kinase, kinase domain

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172