title: Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.
abstract: We describe a patient who presented with a localized growth of mature fat tissue, which was surgically removed. MRI imaging identified diffuse increase in visceral adipose tissue. Targeted deep sequencing of the resected tissue uncovered a p.H1047R variant in PIK3CA, which was absent in blood. This report expands the phenotypic spectrum of mosaic PIK3CA mutations.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, BC, Canada.
authors.forename: Ana S A
authors.initials: AS
authors.lastname: Cohen
authors.forename: Katelin N
authors.initials: KN
authors.lastname: Townsend
authors.forename: Qing-San
authors.initials: QS
authors.lastname: Xiang
authors.forename: Raj
authors.initials: R
authors.lastname: Attariwala
authors.forename: Christof
authors.initials: C
authors.lastname: Borchers
authors.forename: Christof
authors.initials: C
authors.lastname: Senger
authors.forename: Wayne
authors.initials: W
authors.lastname: Picker
authors.forename: Jasna
authors.initials: J
authors.lastname: Levi
authors.forename: Lila
authors.initials: L
authors.lastname: Yewchuk
authors.forename: Joelle
authors.initials: J
authors.lastname: Tan
authors.forename: Patrice
authors.initials: P
authors.lastname: Eydoux
authors.forename: Amy
authors.initials: A
authors.lastname: Lum
authors.forename: Siu-Li
authors.initials: SL
authors.lastname: Yong
authors.forename: Margaret L
authors.initials: ML
authors.lastname: McKinnon
authors.forename: Scott A
authors.initials: SA
authors.lastname: Lear
authors.forename: Robert
authors.initials: R
authors.lastname: Everett
authors.forename: Steven J M
authors.initials: SJ
authors.lastname: Jones
authors.forename: Stephen
authors.initials: S
authors.lastname: Yip
authors.forename: William T
authors.initials: WT
authors.lastname: Gibson
mesh_terms: D000273:Adipose Tissue / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D058534:Class I Phosphatidylinositol 3-Kinases; D005260:Female; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000201:enzymology* / Q000235:genetics*; D008643:Mesentery / Q000473:pathology*; D009030:Mosaicism; D009154:Mutation / Q000235:genetics*; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human
keywords: PIK3CA; fibroadipose hyperplasia; mosaicism; segmental overgrowth