Table 1.
Characteristics of subjects included in this report
| Subject | 1 (F1-II3) |
2 (F1-II7) |
3 (F2-II3) |
4 (F3-II1) |
5 (F3-II2) |
6 (F4-II5) |
7 (F5-III2) |
8 (F5-III3) |
9 (F5-III11) |
10 (F6-II4) |
11 (F6-II8) |
12 (F7-II3) |
Total |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Gender | Female | Male | Male | Male | Male | Male | Female | Female | Male | Female | Male | Female | 7 males: 5 females |
| Ethnicity | Arab | Arab | Cree | Arab | Arab | Arab | Arab | Arab | Arab | Arab | Arab | Iranian | |
| Country of origin | Egypt | Egypt | USA | Egypt | Egypt | Egypt | Saudi Arabia | Saudi Arabia | Saudi Arabia | Saudi Arabia | Saudi Arabia | Iran | |
| Consanguinity | + | + | − | + | + | + | + | + | + | + | + | + | 11/12 |
| WDR45B variant | c.674G>A; p.R225Q | c.674G>A; p. R225Q | c.428–10_435del18 | c.619–3A>G | c.619–3A>G | c.673C>T; p.R225* | c.427+4A>G | c.427+4A>G | c.427+4A>G | c.427+4A>G | c.427+4A>G | c.67+1G>T | |
| Age at last evaluation | 14 years | 4 years | 21 months | 6 years | 22 months | 7 months | 8 years | 10 years | 11 years | 15 years | 3 years | 3 years | 7 months-15 years |
| Outcome | Alive | Alive | Alive | Alive | Deceased | Alive | Deceased | Alive | Deceased | Deceased | Alive | Deceased | 5 deceased: 7 alive |
| Growth at birth Weight in kg (SD) Height in Cm (SD) OFC in Cm (SD) |
3 (−2) NA NA |
2.15(−2.2) NA NA |
2.45(−2) NA NA (Microcephaly) |
3(−1) 49(−0.5) 30(−3.2) |
NA NA NA |
2.25(−2.5) 48(−1.1) 31(−2.6) |
NA NA NA |
NA NA NA |
2.6(−1.5) NA 33(−1.3) |
NA NA NA (Brain atrophy) |
NA NA NA |
NA NA NA |
|
| Growth at last evaluation Weight in kg (SD) Height in Cm (SD) OFC in Cm (SD) |
46 (−0.7) 147.5(−2.2) 49.5(−3.7) |
16 (−1) 99(−0.8) 48(−2.3) |
12.1(0.4) 77(−2.8) 40.5(−5.5) |
12.7(−3.5) 88 (−5.4) 40 (−8.7) |
7(−4.7) 73(−4.1) 36(−8.9) |
6.8 (−1.8) 67(−0.6) 37.5(−5) |
15.1(−5.6) 115(−3.6) 46(−4) |
16.6(−4.7) 115(−3.6) 44.5(−4.2) † |
13.5 (−8.3) 102(−6) 44(−7) |
NA 103(−7.7) 42 (−9.1) |
7(−5.4) 62(−9.1) 43.5(−3.3) |
6(−11) 81(−3.3) 39(−6) |
|
| Microcephaly | + | + | + | + | + | + | + | + | + | + | + | + | 12/12 |
| Developmental delay | + | + | + | + | + | + | + | + | + | + | + | + | 12/12 |
| Epilepsy (Semiology) |
+(GTC) | − | + | + (Myoclonic) | + (Myoclonic, tonic) | + (Myoclonic, GTC) | + (Focal, GTC, myoclonic) | + (Focal, GTC, myoclonic) | + (Focal, GTC) | +(GTC) | +(GTC) | + | 11/12 |
| Epilepsy onset | 6 months | − | 3 months | 2 months | 1 month | Few days after birth | 12 days | 1.5 months | 2 months | 2 months | Neonatal period | NA | Few days-6 months |
| Drug-resistant epilepsy | + | − | + | + | + | + | + | + | + | + | + | + | 11/12 |
| EEG | Theta background with no sharp waves or spikes | Normal | Sharp waves in the left central and right frontal regions | Generalized epileptogenic activity | Generalized epileptogenic activity | Generalized epileptogenic activity | Diffuse slowing and attenuation | Frequent sharp wave discharges over the right posterior quadrant | Diffuse nonspecific slowing with poorly organized background with no epileptiform discharges | NA | NA | NA | |
| Spastic Quadriplegia | − (lower limbs only) | − | + | + | + | + | + | + | + | + | + | NA | 9/11 |
| Facial Features | |||||||||||||
| Bitemporal narrowing | + | − | NA | + | NA | − | NA | NA | + | − | + | NA | 4/7 |
| Thick and arched eyebrows | + | − | NA | + | NA | + (Arched only) | NA | NA | + (with synophrys) | − | + | NA | 5/7 |
| Large ears | − | − | NA | + | NA | + | NA | NA | + | + | + | NA | 5/7 |
| Long philtrum | − | − | NA | + | NA | + | NA | NA | + | − | + (smooth) | NA | 4/7 |
| Others | Facial asymmetry, upslanted and narrow PF, hypertelorism, fullness of upper eyelids, full cheeks | Broad forehead, epicanthal folds | NA | Long face, downslanted PF, thin upper lip, broad chin |
NA (Reported similar to Subject four) |
Narrow PF, hypertelorism, thick lips, retromicrognathia |
NA | NA | Elongated face, epicanthal folds, hypertelorism, depressed nasal bridge, maxillary hypoplasia, elongated jaw | Triangular face, hypertelorism, gum hyperplasia, | Elongated face, depressed nasal bridge, maxillary hypoplasia, elongated jaw | NA | |
Cm: Centimeters; EEG: electroencephalogram; GTC: generalized tonic clonic; Kg: Kilograms; NA: not available; PF: palpebral fissure; SD: standard deviation.
†
OFC obtained at 5 years of age