title: Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing.
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.
authors.affiliation: Department of Clinical Genetics, Aarhus University Hospital, Skejby, Aarhus, Denmark.
authors.forename: Maria
authors.initials: M
authors.lastname: Rasmussen
authors.forename: Lone
authors.initials: L
authors.lastname: Sunde
authors.forename: Karen Petra
authors.initials: KP
authors.lastname: Weigert
authors.forename: Pauline Wilhemina
authors.initials: PW
authors.lastname: Bogaard
authors.forename: Dorte L
authors.initials: DL
authors.lastname: Lildballe
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D058534:Class I Phosphatidylinositol 3-Kinases; D059472:Exome; D005260:Female; D056726:Genetic Association Studies; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008067:Lipoma / Q000175:diagnosis; D009030:Mosaicism; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis; D009154:Mutation; D009506:Nevus / Q000175:diagnosis; D010641:Phenotype; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D013577:Syndrome; D054079:Vascular Malformations / Q000175:diagnosis; D055815:Young Adult
chemical_list: D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human
keywords: CLOVES; PIK3CA; fibroadipose hyperplasia; overgrowth