TY - JOUR
T1 - Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity
AU - Castiglioni, Claudia
AU - Bertini, Enrico
AU - Orellana, Paulina
AU - Villarroel, Cynthia
AU - Las Heras, Facundo
AU - Hinzpeter, Daniel
AU - Paolinelli, Paola
AU - Bevilacqua, Jorge A.
AU - Alvarez, Karin
PY - 2014
Y1 - 2014
N2 - Congenital unilateral overgrowth of the upper extremity affecting only the muscle tissue is rare. We describe on the clinical, histopathological, and neuroimaging findings in a 6-year-old girl with a congenital, non-progressive muscle enlargement of the entire left upper limb with an ipsilateral hand deformity. No cutaneous stigmata or additional features were detected. Sanger sequencing for the AKT1, PIK3CA, and PTEN genes identified an activating c.3140A>G, p.H1047R mutation in the PIK3CA gene from the affected muscle DNA. We demonstrate that isolated congenital muscular upper limb overgrowth with aberrant hand muscles is another condition related genetically to the PIK3CA-related overgrowth spectrum.
AB - Congenital unilateral overgrowth of the upper extremity affecting only the muscle tissue is rare. We describe on the clinical, histopathological, and neuroimaging findings in a 6-year-old girl with a congenital, non-progressive muscle enlargement of the entire left upper limb with an ipsilateral hand deformity. No cutaneous stigmata or additional features were detected. Sanger sequencing for the AKT1, PIK3CA, and PTEN genes identified an activating c.3140A>G, p.H1047R mutation in the PIK3CA gene from the affected muscle DNA. We demonstrate that isolated congenital muscular upper limb overgrowth with aberrant hand muscles is another condition related genetically to the PIK3CA-related overgrowth spectrum.
KW - Congenital unilateral muscle hyperplasia of upper extremity
KW - Overgrowth syndrome
KW - PIK3CA
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U2 - 10.1002/ajmg.a.36651
DO - 10.1002/ajmg.a.36651
M3 - Article
C2 - 24975390
AN - SCOPUS:84905908956
VL - 164
SP - 2365
EP - 2369
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 9
ER -