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Frontiers in immunology, 8 , 598

At least 5% of ASD cases are caused by single nucleotide polymorphisms (SNPs) in genes such as NLGN3, NLGN4, NRXN1, MECP2, SHANK3, FMR1, and UBE3A, with about 10% of these variants being copy number variations (CNVs) that disrupt protein-coding sequences ( 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 ( UBE3A gene is located on the q11-q13 region of human chromosome 15, encoding the E6AP protein, which is an E3 ubiquitin ligase protein involved in protein degradation and transcriptional regulation

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10.1016/j.jhep.2023.03.017 14 DingW