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Article

Trait - driven analysis of the 2p15p16.1 microdeletion syndrome suggests a complex pattern of interactions between candidate genes.

Genes & genomics - 1 Apr 2023

Miceli Martina, Failla Pinella, Saccuzzo Lucia, Galesi Ornella, Amata Silvestra, Romano Corrado, Bonaglia Maria Clara, Fichera Marco

Abstract excerpt

BACKGROUND: Individuals with the 2p15p16.1 microdeletion syndrome share a complex phenotype including neurodevelopmental delay, brain malformations, microcephaly, and autistic behavior. The analysis of the shortest region of overlap (SRO) between deletions in ~ 40 patients has led to the identification of two critical regions and four strongly candidate genes (BCL11A, REL, USP34 and XPO1). However, the...

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Identifiers

PMID: 36807877
DOI: 10.1007/s13258-023-01369-7
PMCID: PMC10027778

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