Table 1 Clinical characteristics observed in patients with pathogenic variants in the BRPF1 gene.
Summary of the relevant clinical characteristics of the patients with variants in BRPF1 | N = 39 | Present case Abarca et al. 2021 | |||
|---|---|---|---|---|---|
Positive | Not described | Negative | %* | ||
Global development delay or intellectual disability | 38 | 1 | 0 | 100.0 | + |
Gross motor delay | 28 | 10 | 1 | 96.6 | − |
Delayed language | 27 | 9 | 3 | 90.0 | + |
Hypotonia | 22 | 14 | 3 | 88.0 | − |
Fine motor delay | 16 | 18 | 5 | 76.2 | + |
Round face | 8 | 27 | 4 | 66.7 | + |
Blepharophimosis | 21 | 6 | 12 | 63.6 | + |
Congenital spinal cord anomalies | 5 | 31 | 3 | 62.5 | − |
Downslanted palpebral fissures | 10 | 23 | 6 | 62.5 | + |
Broad nasal bridge | 14 | 16 | 9 | 60.9 | + |
Joint hypermobility | 6 | 29 | 4 | 60.0 | − |
Ptosis | 21 | 2 | 16 | 56.8 | + |
Flat face | 8 | 23 | 8 | 50.0 | − |
Hypertelorism | 11 | 16 | 12 | 47.8 | + |
Neonatal feeding difficulties | 10 | 18 | 11 | 47.6 | − |
Congenital brain anomalies | 10 | 18 | 11 | 47.6 | − |
Epilepsy | 11 | 3 | 25 | 30.6 | − |
Short stature | 5 | 19 | 15 | 25.0 | − |
Variants in the BRPF1 gene | |||||
Substitution | 18 | 0 | 21 | 46.2 | − |
Partial deletion | 13 | 0 | 26 | 33.3 | − |
Duplication | 5 | 0 | 34 | 12.8 | − |
Total deletion | 0 | 0 | 39 | 0.0 | + |