Table 2.
Similar WDR45 variants causing different diseases
| Diagnosis |
WDR45 variant |
Inheritance |
Variant type |
Sex |
Age |
Reference |
|
| BPAN | c.19C>T | de novo | nonsense | F | 34 | 49 | |
| unclassified | c.19C>T | inherited | nonsense | M | N.A. | 45 | |
| DEE | c.19C>T | de novo | nonsense | F | 3 | 143 | |
| ID | c.19C>T | de novo | nonsense | F | 3 | 67 | |
| West syndrome | c.131-1G>A | de novo | splicing defect | M | 1 | 85 | |
| BPAN | c.131-2A>G | de novo | splicing defect | F | 15 | 54 | |
| BPAN | c.235+1G>A | de novo | splicing defect | F | 35 | 49 | |
| RLS | c.235+1G>T | de novo | splicing defect | F | 22 | 65 | |
| BPAN | c.344+4A>C | de novo | splicing defect | M | 10 | 54 | |
| BPAN | c.344+5G>A | de novo | splicing defect | F | N.A. | 124 | |
| EOEE | c.344+1G>A | de novo | splicing defect | F | 2 | 78 | |
| BPAN | c.400C>T | de novo | nonsense | F | 35 | 120 | |
| BPAN | c.400C>T | de novo | nonsense | F | 49 | 49 | |
| BPAN | c.400C>T | de novo | nonsense | F | 5 | 126 | |
| BPAN | c.400C>T | de novo | nonsense | F | 5 | 54 | |
| West syndrome | c.400C>T | inherited | nonsense | M | 7 | 85 | |
| DEE | c.400C>T | de novo | nonsense | F | 6 | 144 | |
| BPAN | c.700C>T | de novo | nonsense | F | 39 | 49 | |
| BPAN | c.700C>T | de novo | nonsense | F | 40 | 138 | |
| DEE | c.700C>T | de novo | nonsense | F | 2 | 143 | |
| DEE | c.700C>T | de novo | nonsense | F | 11 | 72 | |
| unclassified | c.700C>T | de novo | nonsense | F | N.A. | 45 | |
| BPAN | c.752_754del | unknown | deletion | F | 52 | 137 | |
| DEE | c.752_754del | de novo | deletion | M | 17 | 145 | |
| BPAN | c.830+1G>A | unknown | nonsense | F | 5 | 60 | |
| BPAN | c.830+1G>A | de novo | nonsense | F | 6 | 60 | |
| BPAN | c.830+1G>A | de novo | nonsense | F | 11 | 139 | |
| BPAN | c.830+1G>A | de novo | nonsense | F | 37 | 49 | |
| BPAN (RLS) | c.830+1G>A | de novo | nonsense | F | 14 | 63 | |
| unclassified | c.830+1G>A | inherited | nonsense | M | N.A. | 45 | |
| unclassified | c.830+1G>A | de novo | nonsense | F | N.A. | 45 | |
| DEE | c.830+1G>A | de novo | nonsense | M | 4 | 147 | |
| BPAN | c.830+2T>C | de novo | splicing defect | F | 27 | 46 | |
| BPAN (RLS) | c.830+2T>C | unknown | splicing defect | F | 42 | 61 | |
| BPAN | c.1007_1008del | de novo | nonsense | F | 23 | 49, 54 | |
| BPAN | c.1007_1008del | de novo | frameshift | F | 24 | 49 | |
| BPAN | c.1007_1008del | de novo | frameshift | F | 33 | 49, 51 | |
| DEE | c.1007_1008del | de novo | nonsense | M | 2 | 148 | |
| DEE | c.1007_1008del | de novo | nonsense | F | 7 | 72 | |
The disease within brackets indicates the first diagnosed pathology, before classifying the individual as a BPAN patient. For the cases categorized as “unclassified”, no conclusive disease diagnostic was mentioned in the published case studies. F, female; M, male; N.A., not available.