Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C).

ABSTRACT: Multisystem inflammatory syndrome in children (MIS-C) is a pediatric complication of SARS-CoV-2 infection characterized by multiorgan inflammation and frequently by cardiovascular dysfunction. In a single-center prospective cohort study, optical genome mapping (OGM) was performed on 14 patients, including 11 meeting CDC criteria for MIS-C and 3 with MIS-C-like (MIS-CL) presentations. SVs and CNVs were filtered against population and internal OGM control databases. Seven patients (50%) harbored prioritized variants within or near genes implicated in immune regulation or SARS-CoV-2 response. These included intronic insertions or deletions in ORAI1, STAT4, and ITPR1 (n = 4 patients); a heterozygous insertion disrupting BATF; a large deletion spanning exons 2-10 of

SUBMITTER: Brownstein CA 

PROVIDER: S-EPMC12747551 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature