Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity

Claudia Castiglioni; Enrico Bertini; Paulina Orellana; Cynthia Villarroel; Facundo Las Heras; Daniel Hinzpeter; Paola Paolinelli; Jorge A. Bevilacqua; Karin Alvarez

doi:10.1002/ajmg.a.36651

Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity

Claudia Castiglioni, Enrico Bertini, Paulina Orellana, Cynthia Villarroel, Facundo Las Heras, Daniel Hinzpeter, Paola Paolinelli, Jorge A. Bevilacqua, Karin Alvarez

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	2365-2369
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.36651
Publication status	Published - 2014

Keywords

Congenital unilateral muscle hyperplasia of upper extremity
Overgrowth syndrome
PIK3CA

ASJC Scopus subject areas

Genetics(clinical)
Genetics
Medicine(all)

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Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity. / Castiglioni, Claudia; Bertini, Enrico; Orellana, Paulina; Villarroel, Cynthia; Las Heras, Facundo; Hinzpeter, Daniel; Paolinelli, Paola; Bevilacqua, Jorge A.; Alvarez, Karin.

In: American Journal of Medical Genetics, Part A, Vol. 164, No. 9, 2014, p. 2365-2369.

Research output: Contribution to journal › Article › peer-review

Castiglioni, Claudia ; Bertini, Enrico ; Orellana, Paulina ; Villarroel, Cynthia ; Las Heras, Facundo ; Hinzpeter, Daniel ; Paolinelli, Paola ; Bevilacqua, Jorge A. ; Alvarez, Karin. / Activating PIK3CA somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity. In: American Journal of Medical Genetics, Part A. 2014 ; Vol. 164, No. 9. pp. 2365-2369.

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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

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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.

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