Table 2.
Variants and clinical manifestations of patients harboring BCL11B mutations.
| Case | Variant | Sex | Intellectual disability | Speech impairment | Delay in motor development | Autistic features | Myopathic facial appearance | Thin eyebrows | Small palpebral fissures | Hypertelorism | Prominent nose | Long philtrum | Thin upper lip vermilion | Refractive error | Dental anomalies | Feeding difficulties | Abnormal MRI | Immune response | Allergy/asthma |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 6F/9M | 15/15 | 15/15 | 14/15 | 4/15 | 6/15 | 7/15 | 9/15 | 10/15 | 11/15 | 12/15 | 14/15 | 5/15 | 6/15 | 3/15 | 4/15 | 8/15 | 8/15 | ||
| 1. Present |
c.1192_1196delAGCCC p.S398Qfs*117 |
Female | + | + | + | – | – | – | – | + | – | + | + | – | – | – | + | Deficiency of naïve T-cells | – |
| 2. Lessel et al. (7) |
c.242delG p.C81Lfs*76 |
Male | + | + | + | – | – | – | – | – | + | – | + | Myopia | + | – | – | Frequent/atypical infections | + |
| 3. Punwani et al. (12) |
c.1323T>G p.N441K |
Male | + | + | + | – | – | + | + | + | + | + | + | – | + | – | + | Low TREC at birth |
+ |
| 4. Lessel et al. (7) |
c.1365_1367delCAA p.Y455* |
Male | + | + | + | – | – | – | – | + | – | + | + | Exotropia | – | – | – | – | + |
| 5. Lessel et al. (7) |
c.1495G>T p.E499* |
Female | + | + | + | – | + | – | + | – | – | + | – | Myopia | – | + | + | – | + |
| 6. Lessel et al. (7) |
c.1502dupG p.T502Hfs*15 |
Female | + | + | + | – | + | – | – | + | – | + | + | – | – | – | – | – | – |
| 7. Lessel et al. (7) |
c.1552delC p.R518Afs*45 |
Male | + | + | + | – | – | + | – | + | + | + | + | – | + | – | – | Frequent infectionsa | + |
| 8. Lessel et al. (7) |
c.1600delG p.D534Tfs*29 |
Female | + | + | + | + | + | + | + | + | + | + | + | – | – | – | – | – | – |
| 9. Lessel et al. (7) |
c.1944_1965delGGCGCGGTCAACGGGCGCGGGG p.G649Afs*67 |
Male | + | + | + | – | – | + | + | – | + | + | + | – | + | – | – | Frequent infectionsa | – |
| 10. Qiao et al. (13) |
c.2190_2200delGGACGCACGAC p.T730Tfs*151 |
Female | + | + | + | – | – | + | + | + | + | + | + | – | – | – | – | Low TREC at birth |
– |
| 11. Lessel et al. (7) |
c.2421C>G p.N807K |
Male | + | + | + | – | + | – | + | + | + | – | + | – | + | + | – | Low TREC at birth |
+ |
| 12. Lessel et al. (7) |
c.2449_2456dupAGCCACAC p.G820Afs*27 |
Female | + | + | + | + | + | + | + | + | + | + | + | Hyperopia | + | – | – | – | – |
| 13. Lessel et al. (7) |
c.2671delG p.A891Pfs*106 |
Male | + | + | + | + | + | + | + | + | + | + | + | Hyperopia | – | + | – | Frequent infectionsa | + |
| 14. Lessel et al. (7) |
46,XY,t(4;14) (p15;q32.1) |
Male | + | + | + | + | – | – | – | – | + | – | + | – | – | – | + | – | + |
| 15. Lessel et al. (7) |
46,XY,t(4;14) (q31.1;q32.2) |
Male | + | + | – | – | – | – | + | – | + | + | + | – | – | – | – | – | – |