Table 5. Deleted Genes and deletion size reported for Phelan-McDermid Syndrome participants with and without mitochondrial complex abnormalities.
| Overall (n = 27) | No Complex Abnormalities (n = 13) | Complex Abnormalities (n = 14) | |
|---|---|---|---|
| Deletion Size | |||
| Mean (SD) | 3,179,075 (2,506,868) | 3,124,039 (2,659,428) | 3,230,180 (2,456,505) |
| Median [Min;Max] | 2,243,806 [7,42,694,953,953] | 3,020,212 [7,046,55,144,552] | 2,234,989 [7,42,694,953,953] |
| Deletion Type | |||
| Terminal | 73% (16/22) | 64% (7/11) | 82% (9/11) |
| Interstitial | 9% (2/22) | 9% (1/11) | 9% (2/22) |
| Ring | 23% (5/22) | 27% (3/11) | 18% (2/11) |
| Specific Gene Deletion | |||
| PACSIN2 | 4% (1/27) | 0% (0/13) | 7% (1/14) |
| TTLL1 | 7% (2/27) | 0% (0/13) | 14% (2/14) |
| BIK | 7% (2/27) | 0% (0/13) | 14% (2/14) |
| MCAT | 7% (2/27) | 0% (0/13) | 14% (2/14) |
| TSPO | 7% (2/27) | 0% (0/13) | 14% (2/14) |
| SCUBE1 | 7% (2/27) | 0% (0/13) | 14% (2/14) |
| MPPED1 | 7% (2/27) | 0% (0/13) | 14% (2/14) |
| SULT4A1 | 11% (3/27) | 8% (1/13) | 14% (2/14) |
| PNPLA5 | 11% (3/27) | 8% (1/13) | 14% (2/14) |
| PNPLA3 | 11% (3/27) | 8% (1/13) | 14% (2/14) |
| SAMM50 | 15% (4/27) | 15% (2/13) | 14% (2/14) |
| PARVB | 15% (4/27) | 15% (2/13) | 14% (2/14) |
| PARVG | 15% (4/27) | 15% (2/13) | 14% (2/14) |
| PRR5 | 15% (4/27) | 15% (2/13) | 14% (2/14) |
| ARHGAP8 | 15% (4/27) | 15% (2/13) | 14% (2/14) |
| NUP50 | 15% (4/27) | 15% (2/13) | 14% (2/14) |
| UPK3A | 15% (4/27) | 15% (2/13) | 14% (2/14) |
| FBLN1 | 19% (5/29) | 23% (3/13) | 14% (2/14) |
| ATXN10 | 33% (9/29) | 38% (5/13) | 29% (4/14) |
| WNT7B | 33% (9/29) | 38% (5/13) | 29% (4/14) |
| MIRLET7A3 | 33% (9/29) | 38% (5/13) | 29% (4/14) |
| MIRLET7B | 33% (9/29) | 38% (5/13) | 29% (4/14) |
| PPARA | 33% (9/29) | 38% (5/13) | 29% (4/14) |
| PKDREJ | 33% (9/29) | 38% (5/13) | 29% (4/14) |
| TRMU | 37% (10/27) | 46% (6/13) | 29% (4/14) |
| CELSR1 | 41% (11/27) | 54% (7/13) | 29% (4/14) |
| GRAMD4 | 41% (11/27) | 54% (7/13) | 29% (4/14) |
| CERK | 44% (12/27) | 54% (7/13) | 36% (5/14) |
| BRL | 81% (22/27) | 69% (9/13) | 93% (13/14) |
| ZBED4 | 81% (22/27) | 69% (9/13) | 93% (13/14) |
| AKG12 | 81% (22/27) | 69% (9/13) | 93% (13/14) |
| PIM3 | 81% (22/27) | 69% (9/13) | 93% (13/14) |
| IL17REL | 81% (22/27) | 69% (9/13) | 93% (13/14) |
| MLC1 | 81% (22/27) | 69% (9/13) | 93% (13/14) |
| MOV10L1 | 81% (22/27) | 69% (9/13) | 93% (13/14) |
| SELO | 81% (22/27) | 69% (9/13) | 93% (13/14) |
| TUBGCP6 | 81% (22/27) | 69% (9/13) | 93% (13/14) |
| MAPK12 | 81% (22/27) | 69% (9/13) | 93% (13/14) |
| PLXNB2 | 81% (22/27) | 69% (9/13) | 93% (13/14) |
| SAPS2 | 85% (23/27) | 77% (10/13) | 93% (13/14) |
| SBF1 | 85% (23/27) | 77% (10/13) | 93% (13/14) |
| NCAPH2 | 85% (23/27) | 77% (10/13) | 93% (13/14) |
| SCO2 | 85% (23/27) | 77% (10/13) | 93% (13/14) |
| TYMP | 85% (23/27) | 77% (10/13) | 93% (13/14) |
| CPT1B | 85% (23/27) | 77% (10/13) | 93% (13/14) |
| CHKB | 85% (23/27) | 77% (10/13) | 93% (13/14) |
| MAPK8IP2 | 85% (23/27) | 77% (10/13) | 93% (13/14) |
| ARSA | 85% (23/27) | 77% (10/13) | 93% (13/14) |
| SHANK3 | 93% (25/27) | 92% (12/13) | 93% (13/14) |
| ACR | 78% (21/27) | 77% (10/13) | 79% (11/14) |
| RABL2B | 63% (18/27) | 62% (8/13) | 64% (10/14) |