Table 3.
Recurrent pathogenic and susceptibility copy number variants and the inheritance
| Region (gene within region) | del/dup | Coordinates arr[hg19] | Total no. of cases | Inheritance | ||
|---|---|---|---|---|---|---|
| Pathogenic CNV | Inherited | De novo or NA | ||||
| mat | pat | |||||
| 17p12 (PMP22) | dup | 17p12(14,000,000_15,400,000)*3 | 7 | 4 | 2 | 1 |
| 17p12 (PMP22) | del | 17p12(14,000,000_15,400,000)*1 | 7 | 1 | 5 | 1 a |
| 22q11.2 (TBX6) | del | 22q11.2(18,600,000‐21,800,000)*1 | 4 | 0 | 0 | 4 |
| Xp22.31 (STS) | del | Xp22.31(6,400,000‐8,100,000)*1 | 3 | 1 | 1 | 1 a |
| 7q11.23 | del | 7q11.23(72650120_74207565)*1 | 2 | 0 | 0 | 2 |
| Total | 23 (0.2%) | 6 | 8 | 9 | ||
| Susceptibility CNV | ||||||
| 1q21.1 (RBM8A) | del | 1q21.1(145,300,000_145,700,000)*1 | 3 | 0 | 0 | 3 |
| Distal 1q21.1 (GJA5) | dup | 1q21.1(146,000,000_147,800,000)*3 | 2 | 0 | 0 | 2 |
| Distal 1q21.1 (GJA5) | del | 1q21.1(146,000,000_147,800,000)*1 | 3 | 2 | 1 | 0 |
| 15q11.2 (NIPA1) | del | 15q11.2(22,700,000_23,200,000)*1 | 25 | 10 | 7 | 8 a |
| 15q13.3 (CHRNA7) | del | 15q13.3(32,000,000_32,400,000)*1 | 2 | 2 | 0 | 0 |
| 16p13.11 (MYH11) | dup | 16p13.11(14,800,000_16,500,000)*3 | 22 | 6 | 10 | 6 |
| 16p13.11 (MYH11) | del | 16p13.11(14,800,000_16,500,000)*1 | 9 | 1 | 3 | 5 a |
| Distal 16p11.2 (SH2B1) | del | 16p11.2(28,800,000_29,000,000)*1 | 1 | 0 | 0 | 1 |
| Proximal 16p11.2 (TBX6) | dup | 16p11.2(29,500,000_30,100,000)*3 | 4 | 1 | 0 | 3 |
| Proximal 16p11.2 (TBX6) | del | 16p11.2(29,500,000_30,100,000)*1 | 4 | 0 | 0 | 4 |
| 16p13.3 (CREBBP) | dup | 16p13.3(3,700,000_3,900,000)*3 | 1 | 0 | 0 | 1 |
| 17q12 (HNF1B) | dup | 17q12(34,800,000_36,200,000)*3 | 2 | 1 | 0 | 1 |
| 22q11.2 (TBX1) | dup | 22q11.2(18,600,000_21,400,000)*3 | 6 | 1 | 4 | 1 |
| Total | 84 (0.8%) | 24 | 25 | 35 | ||
del/dup, deletion/duplication; NA, not available.
a
The inheritance of CNV was not available in one case.