Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway Article Swipe
Wei Yan
,
Bin Zhang
,
Huijun Wang
,
Ran Mo
,
Xingyuan Jiang
,
Wen Qin
,
Lin Ma
,
Zhimiao Lin
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1186/s41065-021-00184-y
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1186/s41065-021-00184-y
Background CLOVES syndrome (OMIM# 612918) is a rare overgrowth disorder resulted from mosaic gain-of-function mutations in the PIK3CA gene. All the reported CLOVES-associated PIK3CA mutations are missense mutations affecting certain residues. We aim to investigate underlying mutation and its pathogenicity in a patient with CLOVES syndrome and to evaluate the inhibitory effects of the PI3K/AKT/mTOR pathway inhibitors. Results We performed whole-exome sequencing (WES) and Sanger sequencing to detect underlying somatic mutations in the skin lesion of the patient. Quantitative real-time PCR (qRT-PCR) was employed to evaluate the mRNA abundance of PIK3CA in the patient’s skin lesion. AKT phosphorylation level assessed by immunoblotting of lysates from transiently transfected cells was performed to evaluate the PIK3CA mutations and inhibitory effects of PI3K/AKT/mTOR pathway inhibitors. A somatic frameshift mutation c.3206_3207insG (p.X1069Trpfs*4) in PIK3CA was identified in the genomic DNA extracted from the vascular malformation sample of the patient. This mutation affects the canonical stop codon of PIK3CA (NM_006218.4) and is predicted to produce a prolonged protein with four additional residues. qRT-PCR demonstrated that the mRNA expression levels of the patient’s affected skin tissue were comparable compared to the normal control. In vitro studies revealed that p.X1069Trpfs*4 mutant exhibited increased AKT phosphorylation significantly to that of the wildtype, which could be inhibited by PI3K/AKT/mTOR pathway inhibitors. Conclusions We have identified the first frameshift mutation in PIK3CA that causes CLOVES syndrome, which was confirmed to overactive PI3K/AKT/mTOR pathway by transient transfection assays. We also provided more evidence of ARQ092 to be a potential therapeutic option for PROS in vitro.
Related Topics
Concepts
Frameshift mutation
PI3K/AKT/mTOR pathway
Biology
Missense mutation
Sanger sequencing
Germline mutation
Mutation
Protein kinase B
Molecular biology
Somatic cell
Phosphorylation
Genetics
Mutant
Cancer research
Gene
Signal transduction
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1186/s41065-021-00184-y
- https://hereditasjournal.biomedcentral.com/track/pdf/10.1186/s41065-021-00184-y
- OA Status
- gold
- Cited By
- 16
- References
- 24
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3130635554
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3130635554Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1186/s41065-021-00184-yDigital Object Identifier
- Title
-
Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathwayWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-06-01Full publication date if available
- Authors
-
Wei Yan, Bin Zhang, Huijun Wang, Ran Mo, Xingyuan Jiang, Wen Qin, Lin Ma, Zhimiao LinList of authors in order
- Landing page
-
https://doi.org/10.1186/s41065-021-00184-yPublisher landing page
- PDF URL
-
https://hereditasjournal.biomedcentral.com/track/pdf/10.1186/s41065-021-00184-yDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://hereditasjournal.biomedcentral.com/track/pdf/10.1186/s41065-021-00184-yDirect OA link when available
- Concepts
-
Frameshift mutation, PI3K/AKT/mTOR pathway, Biology, Missense mutation, Sanger sequencing, Germline mutation, Mutation, Protein kinase B, Molecular biology, Somatic cell, Phosphorylation, Genetics, Mutant, Cancer research, Gene, Signal transductionTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
16Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 1, 2024: 2, 2023: 10, 2022: 1, 2021: 2Per-year citation counts (last 5 years)
- References (count)
-
24Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| referenced_works | https://openalex.org/W2009886463, https://openalex.org/W1981711832, https://openalex.org/W2057370954, https://openalex.org/W2000566468, https://openalex.org/W2187552273, https://openalex.org/W1977267072, https://openalex.org/W2017848852, https://openalex.org/W1997842466, https://openalex.org/W2089243580, https://openalex.org/W2090853594, https://openalex.org/W2100770167, https://openalex.org/W2164890061, https://openalex.org/W2343358448, https://openalex.org/W2791954591, https://openalex.org/W2808211602, https://openalex.org/W1876597264, https://openalex.org/W1964061368, https://openalex.org/W2739301023, https://openalex.org/W2610740894, https://openalex.org/W2801123931, https://openalex.org/W2886131286, https://openalex.org/W2915921499, https://openalex.org/W2147941657, https://openalex.org/W2290057196 |
| referenced_works_count | 24 |
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| corresponding_author_ids | https://openalex.org/A5081953947, https://openalex.org/A5052909306 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 8 |
| corresponding_institution_ids | https://openalex.org/I183519381, https://openalex.org/I20231570, https://openalex.org/I38877650, https://openalex.org/I4210107961, https://openalex.org/I4210130930, https://openalex.org/I4210144404 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
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| sustainable_development_goals[0].display_name | Good health and well-being |
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| citation_normalized_percentile.is_in_top_10_percent | True |