Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis

Ana S.A. Cohen, Katelin N. Townsend, Qing San Xiang, Raj Attariwala, Christof Borchers, Christof Senger, Wayne Picker, Jasna Levi, Lila Yewchuk, Joelle Tan, Patrice Eydoux, Amy Lum, Siu Li Yong, Margaret L. Mckinnon, Scott A. Lear, Robert Everett, Steven J.M. Jones, Stephen Yip, William T. Gibson

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)2360-2364
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number9
DOIs
Publication statusPublished - Sep 2014
Externally publishedYes

Keywords

  • Fibroadipose hyperplasia
  • Mosaicism
  • PIK3CA
  • Segmental overgrowth

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