PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

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Mirzaa, G; Timms, AE; Conti, V; Boyle, EA; Girisha, KM; Martin, B; Kircher, M; Olds, C; Juusola, J; Collins, S; Park, K; Carter, M; Glass, I; Krägeloh-Mann, I; Chitayat, D; Parikh, AS; Bradshaw, R; Torti, E; Braddock, S; Burke, L; Ghedia, S; Stephan, M; Stewart, F; Prasad, C; Napier, M; Saitta, S; Straussberg, R; Gabbett, M; O'Connor, BC; Keegan, CE; ... view all 60 authors
  • Publisher: American Society for Clinical Investigation
  • Journal: JCI Insight,volume 1,issue 9 (issn: 2379-3708, eissn: 2379-3708)
  • Related identifiers: pmc: PMC5019182, doi: 10.1172/jci.insight.87623
  • Subject: Research Article
    mesheuropmc: neoplasms

Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of PIK3CA have been associated with the widest spectrum of phenotypes associated with overgrowth and vascular malformations. ... View more