Table 1 Comparison of the clinical features of the reported patients with BCL11B alterations.
Authors | Present patient | Punwani et al. | Lessel et al. | Goos et al. | Qiao | Homma et al. | Prasad et al. | Yang et al. | Gaillard et al. | Lu et al. | Alfei et al. | Harrer et al. | Che et al. |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Published year | 2016 | 2018 | 2019 | 2019 | 2019 | 2020 | 2020 | 2021 | 2021 | 2021 | 2022 | 2022 | |
Gender (number of cases) | M (1) | M (1) | M (6), F (4)a | M (1) | F (1) | M (1) | F (2) | F (1) | M (2), F (2) | F (1) | M (1) | F (1) | M (2), F (2) |
Cognitive/motor development | |||||||||||||
Intellectual disability | + | + | 12/12 | - | + | + | 1/2 | + | 0/4 | + | + | + | + |
Speech impairment | + | + | 12/12 | NA | + | + | 2/2 | + | 2/4 | NA | NA | + | NA |
Delay in motor development | + | + | 11/12 | NA | + | + | 2/2 | + | 2/4 | NA | + | + | NA |
Autistic features | + | - | 4/12 | NA | - | NA | NA | - | NA | NA | NA | NA | NA |
Dysmorphic features | |||||||||||||
Myopathic face appearance | - | - | 6/12 | - | - | NA | 1/2 | NA | 1/4 | NA | NA | NA | NA |
Thin eyebrows | + | + | 5/12 | + | + | NA | 2/2 | + | 1/4 | NA | + | NA | NA |
Small palpebral fissures | + | + | 7/12 | + | NA | 2/2 | NA | 0/4 | NA | + | NA | NA | |
Hypertelorism | ± | + | 7/12 | + | + | NA | 2/2 | + | 1/4 | NA | + | NA | NA |
Prominent nose | + | - | 9/12 | - | + | NA | 1/2 | - | 2/4 | NA | NA | NA | NA |
Long philtrum | + | + | 9/12 | + | + | NA | 2/2 | + | 2/4 | NA | + | NA | NA |
Thin upper lip vermilion | + | + | 11/12 | + | + | NA | 2/2 | + | 3/4 | NA | NA | NA | NA |
Craniosynostosis | + | - | - | + | - | NA | 0/2 | NA | 4/4 | NA | NA | NA | NA |
Others | |||||||||||||
Refractive error | - | - | + | NA | - | NA | NA | NA | 3/4 | NA | + | NA | NA |
Dental anomalies | - | + | 5/12 | NA | - | NA | 1/2 | NA | 0/4 | NA | + | NA | NA |
Feeding problems | + | - | 3/12 | - | - | NA | 2/2 | NA | 1/4 | NA | + | NA | NA |
Epilepsy | - | NA | NA | + | NA | NA | NA | NA | NA | NA | - | NA | NA |
Brain MRI abnormalities | - | + (b) | NA | - | - | NA | 1/2 (c) | + | NA | - | + | + | NA |
Immune system function | |||||||||||||
Immune response | - | + | 5/12 | NA | d | + | 0/2 | + | 1/4 | + | + | NA | NA |
Allergy/asthma | + | + | 7/12 | NA | NA | NA | 0/2 | NA | 1/4 | + | NA | NA | NA |
BCL11B alterations | p.H818Rfs*31 | p.N441K | p.C81Lfs*76 p.Y455* p.E499* p.T502Hfs*15 p.R518Afs*45 p.D534Tfs*29 p.G649Afs*67 p.N807L p.G820Afs*27 p.A891Pfs*106 | p.R3S | p.D731Vfs*150 | p.C81Lfs*76 | p.N807L p.G649Afs*67 | p.S398Qfs*117 | p.P422L p.G582S p.G667E p.P673R | p.C826T | p.N441K | p.L838R | c.427 + 2 G > A |
