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3.2.3.1 15q11-q13 The most common deletion/duplication syndrome associated with ASD phenotypes is the duplication syndrome of chromosome 15q11-q13.This region not only harbors the coding genes for GABA-A receptor 3 (GABRB3), 5 (GABRA5), and 3 (GABRG3) subunits but also serves as a genetic vulnerability hotspot due to its enrichment in low-copy repeats (LCRs)Deletions in the BP1-BP3 breakpoint regions are associated with ASD syndromes (64, 65)

Additionally, oxidative stress, angiogenesis, and genetic predisposition further amplify the disease process (Sieminska et al

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STEP-HFpEF Trial Committees and Investigators