Table 1.
Reported WDR45 variants associated with different diseases
|
Diagnosis |
WDR45 variant |
Inheritance |
|
Variant type |
|
Sex |
Age |
Reference |
| BPAN | ||||||||
| BPAN | c.1A>G | de novo | nonsense | F | 31 | 46 | ||
| BPAN | c.-1_5del | de novo | nonsense | F | 30 | 49 | ||
| BPAN | c.1_362del | unknown | nonsense | F | 10 | 54 | ||
| BPAN | c.19C>T | de novo | nonsense | F | 34 | 49 | ||
| BPAN | c.19dup | de novo | frame shift | M | 31 | 49 | ||
| BPAN | c.27dup(hemi) | inherited | frame shift | F | 34 | 112 | ||
| BPAN | c.38G>C | de novo | missense | F | 44 | 49 | ||
| BPAN | c.55+1G>C | de novo | splicing defect | F | 43 | 49 | ||
| BPAN | c.55+1G>C | unknown | splicing defect | M | 10 mo | 54 | ||
| BPAN | c.56-1G>A | de novo | splicing defect | F | 22 | 49 | ||
| BPAN | c.64del | de novo | frameshift | F | 36 | 113, 114 | ||
| BPAN | c.125dup | unknown | frameshift | F | 2 | 115, 116 | ||
| BPAN | c.131-2A>G | de novo | splicing defect | F | 15 | 54 | ||
| BPAN | c.161_163del | inherited | deletion | M | 20 | 57 | ||
| BPAN | c.161_163del | inherited | deletion | F | 14 | 57 | ||
| BPAN | c.183C>A | de novo | missense | F | 17 | 49 | ||
| BPAN | c.186del | de novo | frameshift | F | 16 | 46 | ||
| BPAN | c.224C>A | unknown | nonsense | F | 1 | 116 | ||
| BPAN | c.228_229del | de novo | frameshift | M | 37 | 49 | ||
| BPAN | c.235+1G>A | de novo | splicing defect | F | 35 | 49 | ||
| BPAN | c.236-18A>G | de novo | splicing defect | F | 6 | 117 | ||
| BPAN | c.249G>A | de novo | nonsense | F | 29 | 118 | ||
| BPAN | c.251A>G | de novo | missense | F | 18 | 119 | ||
| BPAN | c.293T>C | de novo | missense | F | 29 | 49 | ||
| BPAN | c.293T>C | de novo | missense | F | 41 | 120 | ||
| BPAN | c.299T>C | de novo | missense | F | 6 | 60 | ||
| BPAN | c.305dup | de novo | frame shift | M | 44 | 121 | ||
| BPAN | c.322del | de novo | frameshift | F | 39 | 122 | ||
| BPAN | c.342-2A>C | de novo | splicing defect | F | 15 | 123 | ||
| 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 | ||
| BPAN | c.345-1G>A | unknown | frameshift | F | 38 | 125 | ||
| BPAN | c.359dup | de novo | frameshift | F | 45 | 49 | ||
| 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 | ||
| BPAN | c.405_409del | de novo | frame shift | F | 40 | 49 | ||
| BPAN | c.411dup | unknown | frameshift | F | 34 | 127 | ||
| BPAN | c.412insT | de novo | frameshift | F | 39 | 128 | ||
| BPAN | c.414_419del | de novo | deletion | F | 36 | 120 | ||
| BPAN | c.437dup | unknown | splicing defect | F | 40 | 50 | ||
| BPAN | c.439+1G>T | de novo | splicing defect | F | 33 | 50 | ||
| BPAN | c.439+2T>G | de novo | splicing defect | F | 24 | 128 | ||
| BPAN | c.447_448del | de novo | nonsense | F | 8 | 129 | ||
| BPAN | c.447_448del | de novo | nonsense | F | 8 | 129 | ||
| BPAN | c.476del | de novo | frameshift | F | 43 | 49 | ||
| BPAN | c.488del | de novo | frameshift | F | 25 | 130 | ||
| BPAN | c.511C>T | de novo | nonsense | F | 5 | 54 | ||
| BPAN | c.516G>C | de novo | frameshift | F | 28 | 50 | ||
| BPAN | c.519+1_519+3del | de novo* | splicing defect | F | 31 | 131 | ||
| BPAN | c.519+1G>A | de novo | splicing defect | F | 1 | 132 | ||
| BPAN | c.551del | de novo | frameshift | F | 14 | 133 | ||
| BPAN | c.587_588del | de novo | frameshift | F | 33 | 120 | ||
| BPAN | c.587_588del | de novo | frameshift | F | 37 | 120 | ||
| BPAN | c.597_598del | de novo | frameshift | F | 34 | 134 | ||
| BPAN | c.597_598del | de novo | frameshift | M | 1 | 54 | ||
| BPAN | c.606C>G | de novo | missense | F | 37 | 135 | ||
| BPAN | c.626C>A | de novo* | frameshift | F | 30 | 136 | ||
| BPAN | c.628T>C | de novo | missense | F | 33 | 120 | ||
| BPAN | c.637C>T | unknown | nonsense | F | 51 | 50 | ||
| BPAN | c.654del | de novo | frameshift | F | 13 | 54 | ||
| BPAN | c.662_663del | de novo | nonsense | F | 33 | 137 | ||
| BPAN | c.694_703del | de novo | frameshift | F | 44 | 49 | ||
| BPAN | c.700C>T | de novo | nonsense | F | 39 | 49 | ||
| BPAN | c.700C>T | de novo | nonsense | F | 40 | 138 | ||
| BPAN | c.729-2C>G | de novo | splicing defect | F | 22 | 128 | ||
| BPAN | c.752_754del | unknown | deletion | F | 52 | 137 | ||
| 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 | c.830+2T>C | de novo | splicing defect | F | 27 | 46 | ||
| BPAN | c.831-1G>C | de novo | splicing defect | F | 13 | 54 | ||
| BPAN | c.865C>T | unknown | nonsense | F | 13 | 140 | ||
| BPAN | c.873C>G | de novo | nonsense | M | 34 | 58 | ||
| BPAN | c.921del | de novo | frameshift | F | 6 | 78 | ||
| BPAN | c.969_970insT | de novo | frameshift | F | 30 | 78, 120 | ||
| BPAN | c.970_971del | de novo | frameshift | F | 4 | 54, 120 | ||
| 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 | ||
| BPAN | c.1025_1034del | de novo | frameshift | M | 31 | 49, 51 | ||
| BPAN | c.1030del | de novo | frameshift | F | 42 | 49, 137 | ||
| BPAN | c.1033_1034dupAA | de novo | frameshift | F | 33 | 50, 137 | ||
| BPAN | c.1040_1041del | de novo | frameshift | F | 3 | 50, 141 | ||
| BPAN | c.1056C>G | unknown | nonsense | F | 9 | 141, 142 | ||
| BPAN (DEE) | c.614G>A | unknown | missense | F | 3 | 60, 72 | ||
| BPAN (DEE) | c.831-1G>C | de novo | splicing defect | F | 3 | 53 | ||
| BPAN (RLS) | c.761_762insAG | unknown | nonsense | F | 16 | 60 | ||
| BPAN (RLS) | c.830+1G>A | de novo | nonsense | F | 14 | 63 | ||
| BPAN (RLS) | c.830+2T>C | unknown | splicing defect | F | 42 | 61 | ||
| BPAN (RLS) | c.868C>T | de novo | nonsense | F | 6 | 62 | ||
| DEE | ||||||||
| DEE | c.19C>T | de novo | nonsense | F | 3 | 143 | ||
| DEE | c.197T>A | unknown | missense | M | 10 | 74 | ||
| DEE | c.400C>T | de novo | nonsense | F | 6 | 141 | ||
| DEE | c.401G > C | de novo | missense | F | 2 | 143 | ||
| DEE | c.454del | de novo | splicing defect | F | 7 | 72 | ||
| DEE | c.503G > A | de novo | missense | F | 5 | 143 | ||
| DEE | c.629del | de novo | frameshift | F | 8 | 72 | ||
| DEE | c.660del | de novo | frameshift | F | 2 | 72 | ||
| DEE | c.700C>T | de novo | nonsense | F | 2 | 143 | ||
| DEE | c.700C>T | de novo | nonsense | F | 11 | 72 | ||
| DEE | c.726C>G | de novo | nonsense | F | 4 | 72 | ||
| DEE | c.752_754del | de novo | deletion | M | 17 | 145 | ||
| DEE | c.795delT | de novo | missense | F | 7 | 146 | ||
| DEE | c.830+1G>A | de novo | nonsense | M | 4 | 147 | ||
| DEE | c.912del | de novo | frameshift | F | 1 | 143 | ||
| DEE | c.1007_1008del | de novo | nonsense | M | 2 | 148 | ||
| DEE | c.1007_1008del | de novo | nonsense | F | 7 | 72 | ||
| EOEE | ||||||||
| EOEE | chrX:48,809,279-48,829,265del | de novo | deletion | M | 3 mo | 56 | ||
| EOEE | c.251del | de novo | missense | F | 8 | 78 | ||
| EOEE | c.344+1G>A | de novo | splicing defect | F | 2 | 78 | ||
| EOEE | c.479T>G | de novo | missense | F | 13 | 78 | ||
| ID | ||||||||
| ID | c.19C>T | de novo | nonsense | F | 3 | 67 | ||
| ID | c.777del | de novo | frameshift | F | 29 | 71 | ||
| RLS | ||||||||
| RLS | c.235+1G>T | de novo | splicing defect | F | 22 | 65 | ||
| RLS | c.319_320del | unknown | frameshift | F | 6 | 64 | ||
| RLS | c.440-2A>G | de novo | splicing defect | F | 5 | 55 | ||
| West syndrome | ||||||||
| West syndrome | c.131-1G>A | de novo | splicing defect | M | 1 | 85 | ||
| West syndrome | c.248G>A | de novo | nonsense | M | 2 | 85 | ||
| West syndrome | c.400C>T | inherited | nonsense | M | 7 | 85 | ||
| unclassified | ||||||||
| unclassified | c.19C>T | inherited | nonsense | M | N.A. | 45 | ||
| unclassified | c.52C>T | de novo | nonsense | F | N.A. | 45 | ||
| unclassified | chrX:48934349A>G | de novo | missense | F | N.A. | 45 | ||
| unclassified | c.412G>T | de novo | nonsense | F | N.A. | 45 | ||
| unclassified | c.442_446del | inherited | nonsense | M | N.A. | 45 | ||
| unclassified | c.519+2T>C | de novo | splicing defect | F | N.A. | 45 | ||
| unclassified | c.587-588del | de novo | frameshift | F | 11 | 149 | ||
| unclassified | c.700C>T | de novo | nonsense | F | N.A. | 45 | ||
| unclassified | c.718dupA | de novo | nonsense | F | N.A. | 45 | ||
| unclassified | c.728+2T>A | de novo | splicing defect | F | N.A. | 45 | ||
| unclassified | c.729-1G>A | de novo | splicing defect | F | N.A. | 45 | ||
| unclassified | c.729-1G>A | inherited | splicing defect | M | N.A. | 45 | ||
| unclassified | c.830+1G>A | inherited | nonsense | M | N.A. | 45 | ||
| unclassified | c.830+1G>A | de novo | nonsense | F | N.A. | 45 | ||
| unclassified | c.944_953del | de novo | nonsense | F | N.A. | 45 | ||
| unclassified | c.1020_1023del | de novo | frameshift | F | N.A. | 45 | ||
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. *only the mother was sequenced.