Co-Occurrence of <i>RAD21</i> and <i>TNFAIP3</i> Mutations in Cornelia de Lange Syndrome with Pustular Psoriasis: Potential Molecular Interactions.

ABSTRACT: Cornelia de Lange Syndrome (CdLS) is a rare multisystem developmental disorder caused primarily by mutations in cohesin complex genes, including RAD21. Psoriasis is a chronic inflammatory skin disease linked to immune dysregulation, notably involving TNFAIP3 (A20), a negative regulator of NF-κB signaling. Although case reports have suggested a possible coexistence of CdLS and psoriasis, the underlying molecular basis has remained unexplored. Here we report the first case of molecular co-occurrence of CdLS and generalized pustular psoriasis in a patient with novel heterozygous nonsense variant in RAD21 (c.1306C>T, p.Gln436*), pathogenic for CdLS type 4, and a previously unreported truncating variant in TNFAIP3 (c.2199C>A, p.Cys733*), predicted to disrupt N

SUBMITTER: Orozco BE 

PROVIDER: S-EPMC12609602 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature