Table 2. CNVs potentially pathogenic for ASDs.
| Patient | Sex | Age (years) | aCGH results | Genes | Size (Mb) | Parental studies | Inheritance | Clinical features |
|---|---|---|---|---|---|---|---|---|
| 4 | M | 12 | arr 15q13.3(32 218 274–32 445 252) × 3 | CHRNA7 | 0.2 | aCGH | mat | Autism, mild ID, epilepsy, precocious puberty, muscle hypotonia, scoliosis, flat feet, genu valgity |
| arr 11q24.3q25(130 634 945–131 110 814) × 1 | SNX19 | 0.5 | aCGH, FISH RP11-385B5 | mat | ||||
| 5 | F | 4 | arr 18q21.33q21.33(59 773 875–59 919 882) × 1 | PIGN, KIAA1468 | 0.14 | aCGH | mat | Autism, muscle hypotonia, talipes valgus and flat feet |
| 6 | M | 9 | arr 15q11.2(22 423 297–23 086 693) × 1 | GOLGA8DP, GOLGA6L1, TUBGCP5, CYFIP1, NIPA2, NIPA1 | 1.5 | Not done | unknown | Asperger syndrome, abnormal EEG pattern at central, parietal and temporal regions of CNS, flat feet, ligamentous hypotonia |
| 7a | M | 6 | arr 16p13.11(15 126 709–16 286 723) × 3 | PDXDC1, NTAN1, RRN3, MPV17L, C16orf45, KIAA0430, NDE1, MIR484, MYH11, ABCC1, ABCC6 | 1.2 | aCGH | pat | Autism, ID |
Abbreviation: EEG, electroencephalography.
a
Additional 1q42 duplication, a benign gain (Table 3).
Boldface indicate best candidate genes.