title: Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity.
abstract: 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.
authors: Unit of Neurology, Dept. of Pediatrics, Clínica Las Condes, Santiago, Chile.
authors: Claudia
authors: C
authors: Castiglioni
authors: Enrico
authors: E
authors: Bertini
authors: Paulina
authors: P
authors: Orellana
authors: Cynthia
authors: C
authors: Villarroel
authors: Facundo
authors: F
authors: Las Heras
authors: Daniel
authors: D
authors: Hinzpeter
authors: Paola
authors: P
authors: Paolinelli
authors: Jorge A
authors: JA
authors: Bevilacqua
authors: Karin
authors: K
authors: Alvarez
mesh_terms: D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D058534:Class I Phosphatidylinositol 3-Kinases; D005260:Female; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D006984:Hypertrophy; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000002:abnormalities* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D011859:Radiography
chemical_list: D019869:Phosphatidylinositol 3-Kinases; D058534:Class I Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human
keywords: PIK3CA; congenital unilateral muscle hyperplasia of upper extremity; overgrowth syndrome