TY - JOUR
T1 - Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing
AU - Rasmussen, Maria
AU - Sunde, Lone
AU - Weigert, Karen Petra Dammark
AU - Bogaard, Paulina Wilhelmina Storm
AU - Lildballe, Dorte L
N1 - © 2014 Wiley Periodicals, Inc.
PY - 2014/5
Y1 - 2014/5
N2 - 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.
AB - 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.
U2 - 10.1002/ajmg.a.36454
DO - 10.1002/ajmg.a.36454
M3 - Journal article
C2 - 24665065
SN - 1552-4825
VL - 164
SP - 1318
EP - 1321
JO - American Journal of Medical Genetics. Part A
JF - American Journal of Medical Genetics. Part A
IS - 5
ER -