From: Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD
Locus | Syndrome | Rearrangements | Position of critical region | Key genes | % in People with Autism |
---|---|---|---|---|---|
1q21.1 | Â | 1q21.1; del and dup | chr1:146,527,987-147,394,444 | HYDIN2, PRKAB2, CHD1L, BCL9, GJA5, GJA8, GPR89B | Del 0.039%, Dup 0.157% (Pinto et al., 2014) [19] |
2p16.3 | Â | del | chr2:50145643-51259674 | NRXN1 | Del 0.316% (Pinto et al., 2014) [19] |
3q29 | Â | del | chr3:195,720,167-197,354,826 | DLG1 | Del 0.005% (Malhotra et al., 2012) [20] |
7q11.23 | Williams-Beuren syndrome (WBS) | del and dup | chr7:72,744,915-74,142,892 | CLDN3, CLDN4, GTF2, ELN, LIMK1, KCTD7, CLIP2, STX1A, | Del .024%, Dup 0.097% (Pinto et al., 2014) [19] |
9q34 | Kleefstra syndrome | del | chr9:140,513,444-140,730,578 | EHMT1 | Del 0.049% (Pinto et al., 2014) [19] |
15q11.2 | Â | BP1-BP2; del and dup | chr15:22,805,313-23,094,530 | CYFIP1 | Del 0.09% (Malhotra et al., 2012) [20], Dup 0.94% (van der Zwaag et al., 2010) [21] |
15q11-q13 | Prader-Willi and Angleman’s syndromes | BP2-BP3 | chr15:29,161,368-32462776 | UBE3A, ATP10A, GABARB3, GABARA5, GABARG3 | Del 0.192% (Depienne et al., 2009) [22], Dup 0.255% (Pinto et al., 2014) [19] |
15q13.3 | Â | BP4-BP5; del and dup | chr15:32,017,070-32,453,068 | CHRNA7 | Del 0.157%, Dup 0.039% (Pinto et al., 2014) [19] |
16p13.11 | Â | del and dup | chr16:15,511,655-16,293,689 | NDE1, MYH11 | Del 0.137%, Dup 0.268% (Pinto et al., 2014) [19] |
16p11.2 | Â | proximal (593 kb) del and dup | chr16:29,650,840-30,200,773 | KCTD13, ALDOA, CORO1A, MAPK3, TAOK2 | Del 0.42%, Dup 0.39% (Malhotra et al., 2012) [20] |
17q12 | Renal cysts and diabetes syndrome (RCAD) | del and dup | chr17:34,815,904-36,217,432 | NF1 | Del 0.039%, Dup 0.020% (Pinto et al., 2014) [19] |
22q11.2 | Deletion known as DiGeorge syndrome, Velocardiofacial syndrome and 22q11.2 deletion syndrome | del and dup | chr22:19,037,332-21,466,726 | TBX1, COMT, PI4KA, SEPT6 | Del 0.059%, Dup 0.157% (Pinto et al., 2014) [19] |
22q13 | Phelan-McDermid syndrome (PMDS) | del | chr22:51113070-51171640 | SHANK3 | Del 0 .097% (Pinto et al., 2014) [19] |