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Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.

Genes - 29 Feb 2024

Cillo Francesca, Coppola Emma, Habetswallner Federico, Cecere Francesco, Pignata Laura, Toriello Elisabetta, De Rosa Antonio, Grilli Laura, Ammendola Antonio, Salerno Paolo, Romano Roberta, Cirillo Emilia, Merla Giuseppe, Riccio Andrea, Pignata Claudio, Giardino Giuliana

Abstract excerpt

Initially described as a triad of immunodeficiency, congenital heart defects and hypoparathyroidism, 22q11.2 deletion syndrome (22q11.2DS) now encompasses a great amount of abnormalities involving different systems. Approximately 85% of patients share a 3 Mb 22q11.2 region of hemizygous deletion in which 46 protein-coding genes are included. However, the hemizygosity of the genes of this region cannot fully...

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PMID: 38540380
DOI: 10.3390/genes15030321
PMCID: PMC10969806

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