PPP2R5D-Related Neurodevelopmental Disorder and Multiple Haemangiomas
Author Information
Author(s): Comisi Francesco, Soddu Consolata, Lai Francesco, Marica Monica, Lorrai Michela, Mancuso Giancarlo, Giglio Sabrina, Savasta Salvatore
Primary Institution: University of Cagliari
Hypothesis
Is there a link between PPP2R5D-related disorder and multiple haemangiomas?
Conclusion
This study suggests a possible link between PPP2R5D-related disorder and altered angiogenesis, indicating that diffuse haemangiomas may be a novel phenotypic trait of this condition.
Supporting Evidence
- The patient exhibited multiple haemangiomas and developmental delays.
- Whole Exome Sequencing confirmed a pathogenic variant in the PPP2R5D gene.
- The findings suggest a potential link between PPP2R5D dysfunction and angiogenesis.
Takeaway
This study talks about a child with a rare genetic disorder who also has multiple birthmarks called haemangiomas, suggesting they might be related.
Methodology
Whole Exome Sequencing was used to identify a de novo missense variant in the PPP2R5D gene.
Limitations
The study is based on a single case report, limiting the generalizability of the findings.
Participant Demographics
A 1-year-old child born to non-consanguineous parents.
Digital Object Identifier (DOI)
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