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Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis
Author(s) -
Cohen Ana S. A.,
Townsend Katelin N.,
Xiang QingSan,
Attariwala Raj,
Borchers Christof,
Senger Christof,
Picker Wayne,
Levi Jasna,
Yewchuk Lila,
Tan Joelle,
Eydoux Patrice,
Lum Amy,
Yong SiuLi,
McKin Margaret L.,
Lear Scott A.,
Everett Robert,
Jones Steven J. M.,
Yip Stephen,
Gibson William T.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36622
Subject(s) - lipomatosis , adipose tissue , phenotype , somatic cell , mutation , pathology , medicine , biology , anatomy , genetics , gene
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. © 2014 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.