Table 1.
Clinical features and identified SETBP1 variants in previously reported and present studies of SGS cases
| cDNA | Protein | Case | Clinical manifestations | Whether the clinical phenotype is consistent with classical SGS |
References | ||||
|---|---|---|---|---|---|---|---|---|---|
| Facial dysmorphisms |
Neurological abnormalities | Urological findings |
Characteristic skeletal findings |
||||||
| Developmental delay |
Seizures | ||||||||
| Hotspot variants (residues 868–871) | |||||||||
| c.2602G > A | p. Aap868Asn | 15 | 15/15(100%) | 14/14(100%) | 15/15(100%) | 14/15(100%) | 7/9(78%) | 15/15(100%) | 4, 6, 7, 8, 9 |
| c.2602G > T | p. Aap868Thr | 1 | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 4 |
| c.2603 A > C | p. Aap868Ala | 1 | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 6 |
| c.2605 A > G | p. Ser869Gly | 1 | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | NA | 1/1 (100%) | 10 |
| c.2605 A > T | p. Ser869Cys | 1 | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | NA | 1/1 (100%) | 11 |
| c.2606G > A | p. Ser869Asn | 1 | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 4 |
| c.2607 C > G | p. Ser869Arg | 1 | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | NA | 1/1 (100%) | 4 |
| c.2608G > A | p. Gly870Ser | 14 | 13/13(100%) | 12/12(100%) | 12/13(92%) | 13/14(93%) | 5/5 (100%) | 14/14(100%) | 4, 6, 12–16 |
| c.2608G > T | p. Gly870Cys | 1 | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 1/1 (100%) | 0/1 (0%) | 1/1 (100%) | 17 |
| c.2609G > A | p. Gly870Asp | 3 | 3/3 (100%) | 3/3 (100%) | 3/3 (100%) | 1/1 (100%) | 2/2 (100%) | 3/3 (100%) | 4,6 |
| c.2612T > C | p. Ile871Thr | 15 | 14/14(100%) | 10/11(91%) | 13/14(93%) | 13/15(87%) | 7/8 (88%) | 14/15(93%) | 4,6,18,19,20 |
| c.2612T > G | p. Ile871Ser | 2 | 2/2 (100%) | 2/3 (100%) | 1/1(100%) | 1/2 (50%) | NA | 1/2(50%) | 21,22 |
| Total | 56 | 54/54(100%) | 48/49(98%) | 52/54(96%) | 51/56(91%) | 24/28(86%) | 54/56(96%) | ||
| Non-Hotspot variants | |||||||||
| c.1181-1184insA | p.Glu394GlufsX | 1 | 1/1(100%) | 1/1(100%) | 1/1(100%) | 0/1(0%) | 0/1(0%) | 0/1(0%) | 3 |
| c.2572G > A | p. Glu858Lys | 1 | 1/1(100%) | 1/1(100%) | 1/1(100%) | 0/1(0%) | NA | 0/1(0%) | 23 |
| c.2584G > A | p. Glu862Lys | 1 | 1/1(100%) | 1/1(100%) | 0/1 (0%) | 0/1(0%) | NA | 0/1(0%) | 4 |
| c.2601 C > A | p. Ser867Arg | 2 | 2/2(100%) | 1/1(100%) | 2/2(100%) | 0/1(0%) | NA | 0/1(0%) | 4,9 |
| c.2618 C > T | p. Thr873Ile | 1 | 1/1(100%) | 1/1(100%) | 0/1 (0%) | 0/1(0%) | NA | 0/1(0%) | 4 |
| c.2621 A > T | p. Asp874Val | 1 | 1/1(100%) | 1/1(100%) | 0/1 (0%) | 1/1(100%) | 1/1(100%) | 1/1(100%) | Our case |
| Total | 7 | 7/7(100%) | 6/6(100%) | 4/7(57%) | 1/7(14%) | 1/7(14%) | 1/7(14%) | ||