Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing

Am J Med Genet A. 2014 May;164A(5):1318-21. doi: 10.1002/ajmg.a.36454. Epub 2014 Mar 24.

Abstract

Mosaic PIK3CA-mutations have been described in an increasing number of overgrowth syndromes. We describe a patient with a previously unreported segmental overgrowth syndrome with the mutation, PIKCA3 c.3140A>G (p.His1047Arg) in affected tissue diagnosed by exome sequencing. This PIK3CA-associated segmental overgrowth syndrome overlaps with CLOVES syndrome and fibroadipose hyperplasia but is distinct from each of these entities.

Keywords: CLOVES; PIK3CA; fibroadipose hyperplasia; overgrowth.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics*
  • Class I Phosphatidylinositol 3-Kinases
  • Exome*
  • Female
  • Genetic Association Studies
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Lipoma / diagnosis
  • Mosaicism
  • Musculoskeletal Abnormalities / diagnosis
  • Mutation*
  • Nevus / diagnosis
  • Phenotype
  • Phosphatidylinositol 3-Kinases / genetics*
  • Syndrome
  • Vascular Malformations / diagnosis
  • Young Adult

Substances

  • Phosphatidylinositol 3-Kinases
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human

Supplementary concepts

  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi