TBX1 and 22q11.2 deletion syndrome: Here, we showed that a regulatory component located in an intron of TBX1 and encompassing rs41298798 affects the expression of multiple genes associated with 22q11.2 deletion syndrome, including TBX1. Of note, the ancestral allele of rs41298798 drives a decrease in TBX1 expression levels of approximately 59% compared to the expression levels of the derived allele.