Table 4 clinical data of PMS patients including age, genetic findings, and stage of development
No | Age | Gender | Genetics | Language | Motor function | ASD | Epilepsy | Cognition | ADHD | Regressive symptoms |
|---|---|---|---|---|---|---|---|---|---|---|
1 | 5 | M | arr[GRCh37] 20q13.33(62,908,679)x3, 22q13.33(50915849_51178213)x1 | expressive + receptive | Hypotonia | yes | yes | moderate impairment | yes | yes |
2 | 10 | F | 46, XX, del(22) (q13.3).ish 22q13.3 (ARSA-).rev ish dim (22)(q13.3) | expressive | fine motor impairment | yes | no | mild impairment | no | yes |
3 | 22 | F | (c.3788dupC; pALA1264Glyfs*32 in SHANK3) | expressive + receptive | fine motor impairment | no | no | heavy impairment | no | yes |
4 | 22 | M | ring chromosome 22, breakpoint in SHANK3 | expressive | fine motor impairment | no | no | mild impairment | no | yes |
5 | 56 | M | Point mutation in SHANK3 | expressive | fine motor impairment | no | no | mild impairment | no | no |
6 | 57 | M | translocation, breakpoint in SHANK3 | expressive | fine motor impairment | no | no | mild impairment | no | no |
7* | 2 | F | deletion 22q13.32q13.33, not SHANK3-related | expressive + receptive | Hypotonia | yes | no | moderate impairment | no | no |
8 | 3 | F | arr[hg19] 22q13.33q13.33(48568738_51219009)x1 | expressive + receptive | Hypotonia | yes | no | moderate impairment | no | no |
9 | 29 | F | deletion 22q13.33 | expressive + receptive | fine motor impairment | yes | no | heavy impairment | no | yes |
10 | 4 | M | arr[GRCh37] 22q13.31q13.33 (47922828_51195728)x1 | expressive + receptive | Hypotonia | yes | no | heavy impairment | no | no |
11 | 19 | F | c.3711_3723; p.Arg1241fs | expressive + receptive | fine motor impairment | yes | no | moderate impairment | no | no |
12 | 15 | M | c.2998 G > T; p.Glu1000Ter | expressive + receptive | Hypotonia | no | no | moderate impairment | no | no |
13 | 12 | M | microdeletion 22q13.3 | expressive + receptive | Hypotonia | yes | no | heavy impairment | no | no |
14 | 4 | M | deletion 22q13.33 | expressive | Hypotonia | no | no | moderate impairment | no | no |
15 | 4 | F | c.3640dupG, p-(Ala1214Glyfs*69) | expressive | fine motor impairment | no | no | mild impairment | yes | no |
16 | 5 | M | translocation with microdeletion 22q13, microduplication 1q43q44 | expressive + receptive | Hypotonia | yes | no | moderate impairment | yes | no |
17 | 22 | F | ring chromosome 22, breakpoint in SHANK3 | expressive + receptive | fine motor impairment | yes | yes | heavy impairment | no | yes |
18 | 3 | M | 46 XY, del(22)(q13).ish, del(2q13.1)(HIRA+, SHANK3-) | expressive + receptive | severe hypotonia | no | no | heavy impairment | no | no |
19 | 4 | F | deletion 22q13.33 | expressive + receptive | fine motor impairment | yes | no | moderate impairment | yes | no |