Table 1.
Demographic and molecular characteristics of Phelan-McDermid cohort
| Molecular cohort | ID | Age | Sex | Molecular description # |
|---|---|---|---|---|
| PHMDS Small Del/Mut | MS2449 | 14 | M | NM_001372044.1(SHANK3):c.1339dup, p.(Arg447Profs*41) |
| PHMDS Small Del/Mut | MS2452 | 15 | F | NM_001372044.1(SHANK3):c.4113_4114del, p.(Glu1371Aspfs*15) |
| PHMDS Small Del/Mut | MS2453 | 15 | F | NM_001372044.1(SHANK3):c.4113_4114del, p.(Glu1371Aspfs*15) |
| PHMDS-Small Del/Mut | MS2455 | 19 | F | NM_001372044.1(SHANK3):c.3472_3473del, p.(Gly1158Profs*212) |
| PHMDS-Small Del/Mut | MS2457 | 4 | M | NM_001372044.1(SHANK3_v001):c.4086_4087del, p.(Ala1363Profs*7) |
| PHMDS-Small Del/Mut | MS2676 | 10 | M | Deletion size 0.013 Mb (SHANK3 deletion) |
| PHMDS-Small Del/Mut | MS2675 | 10 | M | Deletion size 0.013 Mb (SHANK3 deletion) |
| PHMDS Small Del/Mut | MS2450 | 10 | F | Deletion size 0.06 Mb |
| PHMDS-Small Del/Mut | MS2456 | 18 | M | Deletion size 0.68 Mb |
| PHMDS Small Del/Mut | MS2454 | 6 | F | Deletion size 0.92 Mb |
| PHMDS-Large Del** | MS2463 | 3 | M | Deletion size 1.95 Mb |
| PHMDS-Large Del** | MS2444 | 15 | M | Deletion size 2.32 Mb |
| PHMDS-Large Del** | MS2443 | 17 | F | Deletion size 2.54 Mb |
| PHMDS-Large Del** | MS2441 | 17 | M | Deletion size 3.02 Mb |
| PHMDS-Large Del** | MS2445 | 3 | F | Deletion size 3.46 Mb |
| PHMDS-Large Del** | MS2447 | 3 | F | Deletion size 4.36 Mb |
| PHMDS-Large Del** | MS2442 | 3 | F | Deletion size 4.74 Mb |
| PHMDS-Large Del** | MS2440 | 10 | F | Deletion size 4.78 Mb |
| PHMDS-Large Del** | MS2458 | 8 | F | Deletion size 5.16 Mb |
| PHMDS-Large Del** | MS2465 | 5 | M | Deletion size 5.60 Mb |
| PHMDS-Large Del** | MS2462 | 9 | M | Deletion size 5.90 Mb |
| PHMDS-Small Del/Mut * | MS2460 | 13 | M | 22q13 [9]/normal [21] Mosaic |
PHMDS refers to individuals with > 1 Mb 22q13 deletion. PHMDS Small Del/Mut refers to individuals with small (< 1 Mb) deletions and SHANK3 mutations. The genomic build for variant descriptions is Hg19. #Molecular description was obtained from initial molecular/cytogenetics testing performed in this cohort at diagnosis. Detailed genomic locations of deletions are shown in Table 2. *Mosaic case with typical deletion included in the PHMDS Small Del/Mut cohort as it was not detected by epi-signature. **Samples with epi-signature