ArticleClinical genetics2019
Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.
Article in Clinical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 17 citations in OpenAlex.
- Effective Sirolimus Use in Prenatal and Postnatal Management of Symptomatic Extensive Congenital Capillary-Lymphatic-Venous Malformations (CLVMs): A Report of Two Cases.Paediatric drugs · 2025Article
- Muscle hemihypertrophy syndrome withJAAD case reports · 2022Article
- When, where and which PIK3CA mutations are pathogenic in congenital disorders.Nature cardiovascular research · 2022Review
- Activating PIK3CA postzygotic mutations in segmental overgrowth of muscles with bone involvement in the body extremities.Molecular genetics and genomics : MGG · 2022Article
- A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1.Journal of medical genetics · 2022Article
- Multiple congenital malformations arise from somatic mosaicism for constitutively active Pik3ca signaling.Frontiers in cell and developmental biology · 2022Article
- A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.Clinical genetics · 2022Review
- OncoGEMINI: software for investigating tumor variants from multiple biopsies with integrated cancer annotations.Genome medicine · 2021Article
- Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants.Orphanet journal of rare diseases · 2020Article
- Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.Clinical genetics · 2019Article
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PIK3CA-related overgrowth spectrum is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic PIK3CA mutations. Here, we report clinical data and molecular findings from two patients with congenital muscular upper limb overgrowth and aberrant anatomy. During debulking surgery, numerous ectopic muscles were found in the upper limbs of the patients. DNA sequencing, followed by digital polymerase chain reaction, was performed on DNA extracted from biopsies from hypertrophic ectopic muscles and identified the somatic mosaic PIK3CA hotspot mutations c.3140A > G, p.(His1047Arg) and c.1624G > A, p.(Glu542Lys) in a male (patient 1) and a female (patient 2) patient, respectively. Patient 1 had four ectopic muscles and unilateral isolated muscular overgrowth while patient 2 had 13 ectopic muscles and bilateral isolated muscular overgrowth of both upper limbs, indicating that her mutation occurred at early pre-somitic mesoderm state. The finding of PIK3CA mutations in ectopic muscles highlights the importance of PIK3CA in cell fate in early human embryonic development. Moreover, our findings provide evidence that the disease phenotype depends on the timing of PIK3CA mutagenesis during embryogenesis and confirm the diagnostic entity PIK3CA-related muscular overgrowth with ectopic accessory muscles.
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