Table 2 SHANK3 and IB2 variants in PMS patients (n = 14)
Sample | Size of 22q13 terminal deletion (Mb) | Variant | Effect | Per question average score in the social communication domain (ADI-R) | Per question average score in the restricted and repetitive behavior, interests and activities domain (ADI-R) | Average Vineland II standard score | Notes |
|---|---|---|---|---|---|---|---|
cms 20176a, cms16938, cms16941, cms13591, cms13583, cms13569, cms14279, cms13562 | 3.33035, 3.222768a,4.493653, 4.807163, 8.65534, 5.227017, 7.031477, 6.496731 | SHANK3 c.1612 + 18C > T (Intron 13) | Possible splice effect (reduced splice acceptor site affinity) | M = 1.18, (SD = 0.45) | M = 0.47 (SD = 0.27) | M = 52.3 (SD = 11.05) | rs1557620 C: 81 % T: 19 % (TT: 5.9 %) 1000 genomesC: 80.5 % T: 19.5 % (TT: 4.1 %) NHLBI |
cms13661 | 9.183577 | SHANK3 c.1304 + 48C > T (Intron 10) | Lost 1 CpG | 1.62 | 0.25 | 33 | rs76224556 C: 98 %, T: 2 % (TT: 0.1 %) 1000 genomes C: 98.3 %, T: 1.7 % (TT: 0.04 %) NHLBI |
cms13583 | 8.65534 | IB2 c.594G > A (Exon 5) and SHANK3 c.1612 + 18C > T (Intron 13) | p.Ser198Ser and Possible splice effect (reduced splice acceptor site affinity) | 0.62 | 0.5 | 40 | Novel |
cms13465, cms13436, cms13459, cms24824, cms20670 | 4.848708, 2.79066, 3.088414, 6.718459, 0.219087 | None | N/A | M = 0.99 (SD = 0.51) | M = 0.52 (SD = 0.47) | M = 58.7 (SD = 13.6) | N/A |