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Article

Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.

Orphanet journal of rare diseases - 20 Dec 2024

Castiglioni Silvia, Pezzoli Laura, Pezzani Lidia, Lettieri Antonella, Di Fede Elisabetta, Cereda Anna, Ancona Silvia, Gallina Andrea, Colombo Elisa Adele, Parodi Chiara, Grazioli Paolo, Taci Esi, Milani Donatella, Iascone Maria, Massa Valentina, Gervasini Cristina

Abstract excerpt

BACKGROUND: the protein phosphatase 3 catalytic subunit alpha (PPP3CA) gene encodes for the alpha isoform of the calcineurin catalytic subunit, which controls the phosphorylation status of many targets. Currently, 23 pathogenic variants of PPP3CA are known, with clinical manifestations varying by mutation type and domain. RESULTS: through whole exome sequencing, we found two de novo variants in PPP3CA: a...

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Identifiers

PMID: 39707491
DOI: 10.1186/s13023-024-03507-0
PMCID: PMC11662586

Genes

PPP3CA

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