Figure 1.
Figure 2.
Figure 3.
Clinical Features of patients With KIF11 variants_
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 | |
|---|---|---|---|---|---|---|---|
| Nucleotide variant | c.2224_2225del | c.2946dupT | c.2946dupT | c.2946dupT | c.2946dupT | c.2946dupT | c.2946dupT |
| Protein alteration | p.Asn742TyrfsTer6 | p.Leu983SerfsTer6 | p.Leu983SerfsTer6 | p.Leu983SerfsTer6 | p.Leu983SerfsTer6 | p.Leu983SerfsTer6 | p.Leu983SerfsTer6 |
| Inheritance | De novo | Maternal | Maternal | Maternal | Maternal | Maternal | NA |
| Microcephaly | (−3 SDS) | (−2.15 SDS) | (+) | (+) | (+) | (+) | (+) |
| Eye abnormalities | Myopia, Astigmatism, Keratoconus, Bilateral optic nerve hypoplasia, Bilateral staphyloma | (−) | Myopia | (−) | Cataract, Severe vision loss | Severe vision loss | NA |
| Lymphedema | (−) | Dorsal pedal lymphedema | (−) | (−) | (−) | (−) | (−) |
| Intellectual disability | Moderate | (−) | (−) | (−) | Severe | Severe | Mild |
| Seizures | Afebrile seizures | (−) | (−) | (−) | (−) | (−) | (−) |
| Dysmorphic findings | Sloping forehead, synophrysis, bilateral esotropia, retrognathia and clinodactyly of the fifth finger | Upslanting palpebral fissures, anteverted nares and broad nasal tip, retrognathia, prominent ears, hypoplasic toenails | NA | (−) | NA | NA | NA |
| Additional clinical features | Increased periorbital CSF distance on brain MRI, Tantrums | Craniosynostosis | (−) | (−) | Craniosynostosis | (−) | (−) |