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

American journal of medical genetics. Part A ·第 164A 卷 ·第 9 期 ·2015-04-20

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

摘要

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.

关键词

PIK3CA fibroadipose hyperplasia mosaicism segmental overgrowth

文献信息

期刊

American journal of medical genetics. Part A

期刊简称

Am J Med Genet A

ISSN

1552-4825

DOI

10.1002/ajmg.a.36622

发表日期

2015-04-20

收录日期

2014-08-15

更新日期

2014-08-15

语言

英语

国家/地区

United States

NLM ID

101235741

外部链接

PubMed 原文 DOI: 10.1002/ajmg.a.36622 查看期刊详情

分析服务

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

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