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

doi:10.1002/ajmg.a.36622

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 journal › Article › peer-review

15 Scopus citations

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 language	English
Pages (from-to)	2360-2364
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	164
Issue number	9
DOIs	https://doi.org/10.1002/ajmg.a.36622
State	Published - Sep 2014
Externally published	Yes

Keywords

Fibroadipose hyperplasia
Mosaicism
PIK3CA
Segmental overgrowth

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10.1002/ajmg.a.36622

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Cohen, A. S. A., Townsend, K. N., Xiang, Q. S., Attariwala, R., Borchers, C., Senger, C., Picker, W., Levi, J., Yewchuk, L., Tan, J., Eydoux, P., Lum, A., Yong, S. L., Mckinnon, M. L., Lear, S. A., Everett, R., Jones, S. J. M., Yip, S., & Gibson, W. T. (2014). Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis. American Journal of Medical Genetics, Part A, 164(9), 2360-2364. https://doi.org/10.1002/ajmg.a.36622

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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.",

keywords = "Fibroadipose hyperplasia, Mosaicism, PIK3CA, Segmental overgrowth",

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

year = "2014",

month = sep,

doi = "10.1002/ajmg.a.36622",

language = "English",

volume = "164",

pages = "2360--2364",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "John Wiley and Sons Inc.",

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}

Cohen, ASA, Townsend, KN, Xiang, QS, Attariwala, R, Borchers, C, Senger, C, Picker, W, Levi, J, Yewchuk, L, Tan, J, Eydoux, P, Lum, A, Yong, SL, Mckinnon, ML, Lear, SA, Everett, R, Jones, SJM, Yip, S & Gibson, WT 2014, 'Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis', American Journal of Medical Genetics, Part A, vol. 164, no. 9, pp. 2360-2364. https://doi.org/10.1002/ajmg.a.36622

TY - JOUR

T1 - Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis

AU - Cohen, Ana S.A.

AU - Townsend, Katelin N.

AU - Xiang, Qing San

AU - Attariwala, Raj

AU - Borchers, Christof

AU - Senger, Christof

AU - Picker, Wayne

AU - Levi, Jasna

AU - Yewchuk, Lila

AU - Tan, Joelle

AU - Eydoux, Patrice

AU - Lum, Amy

AU - Yong, Siu Li

AU - Mckinnon, Margaret L.

AU - Lear, Scott A.

AU - Everett, Robert

AU - Jones, Steven J.M.

AU - Yip, Stephen

AU - Gibson, William T.

PY - 2014/9

Y1 - 2014/9

N2 - 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.

AB - 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.

KW - Fibroadipose hyperplasia

KW - Mosaicism

KW - PIK3CA

KW - Segmental overgrowth

UR - https://www.scopus.com/pages/publications/84905906618

U2 - 10.1002/ajmg.a.36622

DO - 10.1002/ajmg.a.36622

M3 - Article

C2 - 24903541

AN - SCOPUS:84905906618

SN - 1552-4825

VL - 164

SP - 2360

EP - 2364

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 9

ER -

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

Abstract

Keywords

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