Jacquemont4 | AGPC5 | Sebat6 | Marshall7 | Christian8 | Present study | |
Array platform | 1 Mb BAC | 10 Kb SNP | 35 Kb Oligo | 500 Kb SNP | 19 Kb BAC | 1 Mb BAC |
Sample DNA | Blood | Cell line | Blood or cell line | Blood | Cell line | Blood |
Original sample cohort | ||||||
Total number | 29 complex ASDs | 196 (filtered dataset) | 195 non-syndromic ASDs | 427 | 397 | 100 complex ASDs. Normal karyotype/targeted FISH |
Family type | N/A | 173 MPX families | SPX: 61% | SPX: 56% | SPX: 9% | SPX: 31% |
MPX: 39% | MPX: 44% | MPX: 91% | MPX-I: 45% | |||
MPX-E: 24% | ||||||
Male: female | 1.4:1 | N/A | 5:1 | N/A | 1.4:1 | 3.2:1 |
Subjects with pCNVs | ||||||
Frequency of pCNVs in cohort | 27.5% | 5.1% | 7.2% | 6.3% | 11.6% | 9% |
By family type | N/A | MPX: 5.1% | SPX: 10% | SPX: 7% | SPX: 8.6% | SPX: 9.7% |
MPX: 2.6% | MPX: 2% | MPX: 11.9% | MPX-I: 6.7% | |||
MPX-E: 12.5% | ||||||
Male: female | 1:1 | N/A | 1.8:1 | 1.4:1 | 0.8:1 | 1.25:1 |
Ratio del:dup of pCNV | 1.7:1 | 1.3:1 | 6:1 | 1:1* | 0.4:1 | 2:1 |
pCNV average size (range) | 5.3 Mb(2–7.9 Mb) | 3.4 Mb (NS) | 3 Mb(99 Kb–12 Mb) | 2.6 Mb(66 Kb–18 Mb)* | 1.1 Mb(189 Kb–5.5 Mb) | 3.4 Mb(159 Kb–10 Mb) |
BAC, bacterial artificial chromosome; FISH, fluorescence in situ hybridisation; N/A, not assessed; NS, not specified; pCNV, pathogenic copy number variants; SNP, single nucleotide polymorphism.
*Indicates the data were obtained among 13 cases with de novo CNVs and no cytogenetic rearrangement.