Table 1. Major clinical findings in 51 individuals with germline mutations in SETBP1.
NA stands for “Not Assessed”.
| Residue affected in SETBP1 | E862 | S867 | D868 | S869 | G870 | I871 | T873 | All degron-affecting mutations (868–871) | |
|---|---|---|---|---|---|---|---|---|---|
| Male(M):female(F) | 1F | 2 F | 8F:7 M | 2F | 5F: 10M | 6F:9M | 1M | 21F:26M | |
| Craniofacial findings | |||||||||
| Microcephaly | 1/1 | 1/2 | 10/12 | 1/2 | 10/13 | 8/11 | 0/1 | 29/39 | 74.4% |
| SGS facial gestalt | 0/1 | 2/2 | 15/15 | 2/2 | 15/15 | 15/15 | 0/1 | 47/47 | 100.0% |
| Congenital anomalies | |||||||||
| Hydronephrosis | 0/1 | 0/2 | 15/15 | 2/2 | 14/15 | 14/15 | 0/1 | 45/47 | 95.7% |
| Genital abnormalities | 1/1 | 0/2 | 14/15 | 1/2 | 14/15 | 12/13 | 0/1 | 41/45 | 91.1% |
| Cardiac defects | 0/1 | 1/2 | 10/15 | 1/2 | 4/13 | 5/13 | 0/1 | 20/43 | 46.5% |
| Tracheo/laryngomalacia | 0/1 | 0/1 | 3/4 | 0/2 | 3/8 | 2/2 | 0/1 | 8/16 | 50.0% |
| Inguinal hernia | 0/1 | 0/1 | 2/4 | 0/2 | 6/8 | 0/1 | 0/1 | 8/15 | 53.3% |
| Alacrima | 0/1 | 2/2 | 6/10 | 0/2 | 7/9 | 6/6 | 0/1 | 19/27 | 70.4% |
| Neurodevelopmental anomalies | |||||||||
| Developmental delay | 1/1 | 2/2 | 14/14 | 2/2 | 13/13 | 10/10 | 1/1 | 39/39 | 100.0% |
| Seizures | 0/1 | 2/2 | 15/15 | 2/2 | 13/14 | 12/13 | 0/1 | 42/44 | 95.5% |
| Spasticity and/or hypertonia | 0/1 | 1/1 | 4/4 | 1/2 | 8/10 | 4/4 | 1/1 | 17/20 | 85.0% |
| Vision impairment | 1/1 | 1/1 | 7/10 | 1/2 | 7/8 | 5/6 | 0/1 | 20/26 | 76.9% |
| Hearing impairment | 0/1 | 0/1 | 9/9 | 0/1 | 7/8 | 8/9 | 0/1 | 24/27 | 88.9% |
| Progressive failure to thrive | 0/1 | 0/1 | 10/11 | 1/2 | 13/13 | 8/9 | 0/1 | 32/35 | 91.4% |
| Brain MRI/CT | |||||||||
| Ventriculomegaly | 0/1 | NA | 6/12 | 2/2 | 11/14 | 7/14 | 0/1 | 26/42 | 61.9% |
| Underdeveloped corpus callosum | 0/1 | NA | 9/11 | 0/2 | 12/13 | 10/12 | 0/1 | 31/38 | 81.6% |
| Cortical atrophy or dysplasia | 0/1 | NA | 8/10 | 0/2 | 7/10 | 3/11 | 1/1 | 18/33 | 54.5% |
| Choroid plexus cysts | 0/1 | NA | 2/9 | 0/2 | 8/10 | 3/10 | 0/1 | 13/31 | 41.9% |
| Radiological findings | |||||||||
| Sclerotic base of skull or mastoid | NA | NA | 9/10 | 0/1 | 5/5 | 5/7 | NA | 19/23 | 82.6% |
| Hypoplastic distal phalanges | 0/1 | NA | 8/9 | 0/1 | 8/9 | 5/6 | NA | 21/25 | 84.0% |
| Broad ribs | 0/1 | NA | 10/13 | 2/2 | 6/7 | 9/9 | NA | 27/31 | 87.1% |
| Hypoplastic/underossified pubic bones | 0/1 | NA | 6/7 | 2/2 | 4/5 | 6/6 | NA | 18/20 | 90.0% |
| Tumors | 0/1 | 0/2 | 5/11 | 0/2 | 1/11 | 1/9 | 0/1 | 7/33 | 21.2% |