Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing

Maria Rasmussen, Lone Sunde, Karen Petra Dammark Weigert, Paulina Wilhelmina Storm Bogaard, Dorte L Lildballe

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18 Citationer (Scopus)

Abstract

Mosaic PIK3CA-mutations have been described in an increasing number of overgrowth syndromes. We describe a patient with a previously unreported segmental overgrowth syndrome with the mutation, PIKCA3 c.3140A>G (p.His1047Arg) in affected tissue diagnosed by exome sequencing. This PIK3CA-associated segmental overgrowth syndrome overlaps with CLOVES syndrome and fibroadipose hyperplasia but is distinct from each of these entities.

OriginalsprogEngelsk
TidsskriftAmerican Journal of Medical Genetics. Part A
Vol/bind164
Udgave nummer5
Sider (fra-til)1318-1321
Antal sider4
ISSN1552-4825
DOI
StatusUdgivet - maj 2014

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