Publications by authors named "L Pezzoli"
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 frameshift variant predicted leading to a truncated protein in Pt.
Genetics architecture of spontaneous coronary artery dissection in an Italian cohort.
Front Cardiovasc Med
November 2024
Spontaneous coronary artery dissection (SCAD) is a relevant non-atherosclerotic cause of acute coronary syndrome with a complex genetic architecture. Recent discoveries have highlighted the potential role of miRNAs and protein-coding genes involved in the processing of small RNAs in the pathogenesis of SCAD. Furthermore, there may be a connection between SCAD and the increased cardiovascular risk observed in fragile X premutation carriers as well as a correlation with pathogenetic variants in genes encoding for collagen and extracellular matrix, which are related to connective tissue disorders (CTDs).
View Article and Find Full Text PDF: The pathogenetic role of 15q11.2 Copy Number Variations (CNVs) remains contentious in the scientific community, as microdeletions and microduplications in this region are linked to neurodevelopmental disorders with variable expressivity. This study aims to explore the diagnostic utility of Exome Sequencing (ES) in a cohort of pediatric patients with 15q11.
View Article and Find Full Text PDFArticle Synopsis
- - Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder that involves intellectual disabilities, unique facial features, and unusually large thumbs and toes, with most cases linked to specific genetic variants.
- - The syndrome is considered a chromatinopathy due to the mutations affecting genes involved in epigenomic regulation, making it difficult to diagnose based solely on phenotype due to its varied presentation.
- - A case study of a patient with a rare form of RTS highlights the issue of potential underdiagnosis for milder cases, suggesting that combining phenotype-based diagnostics with advanced genetic sequencing techniques may improve detection rates.