A Novel 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/10.21203/rs.3.rs-201234/v1
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.21203/rs.3.rs-201234/v1
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. To investigate underlying mutation and its pathogenicity in a patient with CLOVES syndrome and to evaluate the inhibitory effect of ARQ092, one 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 Western blot was performed to evaluate the PIK3CA mutations and inhibitory effects of ARQ092. A novel 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 compared to that of the wildtype, which could be inhibited by ARQ092. Conclusions We have identified the first frameshift mutation in PIK3CA , which overactivated PI3K/AKT/mTOR pathway to cause CLOVES syndrome. We also provided evidence of ARQ092 to be a potential therapeutic option for PROS in vitro .
Related Topics
Concepts
Frameshift mutation
Missense mutation
PI3K/AKT/mTOR pathway
Sanger sequencing
Mutation
Germline mutation
Biology
Somatic cell
Molecular biology
Protein kinase B
Genetics
Mutant
Phosphorylation
Cancer research
Gene
Signal transduction
Metadata
- Type
- preprint
- Language
- en
- Landing Page
- https://doi.org/10.21203/rs.3.rs-201234/v1
- https://www.researchsquare.com/article/rs-201234/latest.pdf
- OA Status
- green
- References
- 15
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4231395140
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4231395140Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.21203/rs.3.rs-201234/v1Digital Object Identifier
- Title
-
A Novel Somatic Frameshift Mutation in PIK3CA Causes CLOVES Syndrome by Provoking PI3K/AKT/mTOR PathwayWork title
- Type
-
preprintOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-02-16Full 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/10.21203/rs.3.rs-201234/v1Publisher landing page
- PDF URL
-
https://www.researchsquare.com/article/rs-201234/latest.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://www.researchsquare.com/article/rs-201234/latest.pdfDirect OA link when available
- Concepts
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Frameshift mutation, Missense mutation, PI3K/AKT/mTOR pathway, Sanger sequencing, Mutation, Germline mutation, Biology, Somatic cell, Molecular biology, Protein kinase B, Genetics, Mutant, Phosphorylation, Cancer research, Gene, Signal transductionTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
0Total citation count in OpenAlex
- References (count)
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15Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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