Table 5 Pathogenic exonic CNVs detected by CMA-COMP array
From: Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
Case | Gene | Disease association | Exon(s) | Copy number change | Chromosome Location | Inheritance | Gender |
|---|---|---|---|---|---|---|---|
1 | NRXN1 | Autism and developmental disorders | 23 | Loss | 2p16.3 | Unknown | F |
2 | NRXN1 | Autism and developmental disorders | 3–5 | Loss | 2p16.3 | Paternal | M |
3 | NRXN1 | Autism and developmental disorders | 4–5 | Loss | 2p16.3 | Unknown | M |
4 | MSH6 | Hereditary nonpolyposis colorectal cancer | 5–6 | Loss | 2p16.3 | Unknown | F |
5 | TGFB1 | Corneal dystrophy | 8–10 | Loss | 5q31.1 | Unknown | F |
6 | VPS13B | Cohen syndrome | 4–14 | Homozygous loss | 8q22.2 | Unknown | F |
7 | VPS13B | Cohen syndrome | 22–25 | Loss | 8q22.2 | Unknown | M |
8 | BRCA2 | Increased risk of cancer | 13–14 | Loss | 13q13.1 | Unknown | M |
9 | UBE3A | Angelman syndrome | 7–14 | Loss | 15q11.2 | Maternal | F |
10 | CHRNA7 | Intellectual disability and seizures | Entire gene | Loss | 15q13.3 | Unknown | F |
11 | ANKRD11 | KBG syndrome | 4–13 | Loss | 16q24.3 | Unknown | F |
12 | ANKRD11 | KBG syndrome | 2–3 | Loss | 16q24.3 | Unknown | F |
13 | HNF1B | Polycystic kidney disease, genital malformations, pancreatic atrophy and maturity-onset diabetes of the young type 5 | 7–8 | Loss | 17q12 | Unknown | M |
14 | DMD | Duchenne muscular dystrophy | 15 | Gain | Xp21.1 | Unknown | M |
15 | DMD | Duchenne muscular dystrophy | 40–50 | Loss | Xp21.1 | Unknown | M |
16 | DMD | Duchenne muscular dystrophy | 63–64 | Gain | Xp21.1 | Unknown | M |
17 | DMD | Duchenne muscular dystrophy | 49–51 | Loss | Xp21.1 | Maternal | M |
18 | MED12 | FG syndrome and Lujan–Fryns syndrome | 25–28 | Gain | Xq13.1 | De novo | M |
19 | GPC3 | Simpson–Golabi–Behmel syndrome | 7 | Gain | Xq26.2 | Unknown | M |
20 | FMR1 | X-linked intellectual disability | Entire gene | Gain | Xq27.3 | Unknown | M |
21 | L1CAM | X-linked hydrocephalus | 1–2 | Loss | Xq28 | Unknown | M |
