Table 1.
Demographic data of the WDR45 cohort.
| Total | Male | Female | |
|---|---|---|---|
| Cases: n | 160* | 21 | 126 |
| Sex: M:F | 1:6 | ||
| Median age at data collection: Years | 13 (IQR = 26.5) | 7 (IQR = 23.4) | 14.2 (IQR = 27) |
| Median age at disease onset: Years | 0.8 (IQR = 1) | 0.3 (IQR = 0.3) | 1 (IQR = 1.1) |
| Median age at diagnosis: Years | 13 (IQR = 27.7) | 7 (IQR = 23.5) | 14 (IQR = 27) |
| Median diagnostic delay: Years | 6.2 (IQR = 19.5) | 2.7 (IQR = 4) | 7.5 (IQR = 20.9) |
| Median age at last follow-up: Year | 13.0 (IQR = 25.2) | 6.0 (IQR = 20.6) | 14.0 (IQR = 27.0) |
| Outcome: | |||
| Alive: n | 155 (96.9%) | 20 (100%) | 120 (96%) |
| Deceased: n | 5 (3.1%) | 0 | 5 (4%) |
| Genetic testing method (n = 148) | |||
| Whole-exome-sequencing: n | 92 (62.2%) | ||
| Panel diagnostics: n | 27 (18.2%) | ||
| Sanger sequencing: n | 25 (16.9%) | ||
| Whole-genome sequencing: n | 3 (2%) | ||
| array-CGH: n | 1 (0.7%) | ||
| Segregation | |||
| de novo: n | 110 (68.8%) | 12 (57.1%) | 87 (69%) |
| putative parental germline mosaic: n | 5 (3.1%) | 3 (14.3%) | 2 (1.6%) |
| NA: n | 46 (28.8%) | 7 (33.3%) | 37 (29.4%) |
| Variant type | |||
| Frameshift variant: n | 45 (28.1%) | 6 (28.6%) | 38 (30.2%) |
| Premature stop codon: n | 44 (27.5%) | 3 (14.3%) | 34 (27.0%) |
| Splicing variant: n | 33 (20.6%) | 6 (28.6%) | 26 (20.6%) |
| Missense variant: n | 18 (11.2%) | 2 (9.5%) | 14 (11.1%) |
| Small deletion: n | 9 (5.6%) | 3 (14.3%) | 6 (4.8%) |
| Gross deletion: n | 4 (2.5%) | 1 (4.8%) | 1 (0.8%) |
| Start loss: n | 1 (0.6%) | 0 | 1 (0.8%) |
| other: n | 2 (1.2%) | 0 | 2 (1.6%) |
| NA: n | 4 (2.5%) | 0 | 4 (3.2%) |
*no information on sex was available in 13 cases. CGH, comparative genomic hybridization; F, female; IQR, interquartile range; M, male; n, number; NA, not available.