Article
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.
American journal of medical genetics. Part A - 1 Sept 2014
Cohen Ana S A, Townsend Katelin N, Xiang Qing-San, Attariwala Raj, Borchers Christof, Senger Christof, Picker Wayne, Levi Jasna, Yewchuk Lila, Tan Joelle, Eydoux Patrice, Lum Amy, Yong Siu-Li, McKinnon Margaret L, Lear Scott A, Everett Robert, Jones Steven J M, Yip Stephen, Gibson William T
Abstract excerpt
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.
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