Table 1 Cohort—molecular characteristics
From: A genome-wide DNA methylation signature for SETD1B-related syndrome
Patient no. | Patient ID | Aberrations | Pathogenicity | Inheritance | SETD1B aberrations/variations | KDM2B aberration | SETD1B DNAm signature | Batch | Previously reported |
|---|---|---|---|---|---|---|---|---|---|
1 | 1_mut | p.Arg1301* | Pathogenic | de novo | Yes | No | Yes | 1 | No; |
2 | 2_mut | p.Arg1902Cys | Pathogenic | de novo | Yes | No | Yes | 1 | No |
3 | 3_mut | p.Arg1902Cys | Pathogenic | de novo | Yes | No | Yes | 2 | Yes; Hiraide et al. [8] |
4 | 4_mut | p.Arg1885Trp | Pathogenic | de novo | Yes | No | Yes | 2 | Yes; Hiraide et al. [8] |
5 | 5_mut | p.Arg1885Trp | Pathogenic | unknown | Yes | No | Yes | 2 | No |
6 | 6_mut | p.Glu1692del | VUS | unknown | Yes | No | No | 1 | No |
7 | 7_mut | p.Glu1160Lys | VUS | de novo | Yes | No | No | 2 | No |
8 | 1_del12q | The minimal deletion: | VUS | Pat. inheritance | No | Yes | No | 1 | Yes; Chouery et al. [2] |
12q24.3(121150820-122120257) | |||||||||
The maximal deletion: | |||||||||
12q24.3(121139660-122135589) | |||||||||
9 | 2_del12q | The minimal deletion: | Pathogenic | de novo | Yes | Yes | Yes | 2 | No |
12q24.31(121838818-122405204) | |||||||||
The maximal deletion: | |||||||||
12q24.31(121814901-122423659) | |||||||||
10 | 3_del12q | The minimal deletion: | Pathogenic | de novo | Yes | Yes | Yes | 1 | Yes; Labonne et al. [5] |
12q24.31(121895610-122271171) | |||||||||
The maximal deletion: | |||||||||
12q24.31(121882128-122294222) | |||||||||
11 | 4_del12q | The minimal deletion: | Pathogenic | de novo | Yes | No | Yes | 1 | Yes; Qiao et al. [4] |
12q24.31(122255880-123758046) | |||||||||
The maximal deletion: | |||||||||
12q24.31(122234178-123780094) | |||||||||
12 | 5_del12q | The minimal deletion: | VUS | unknown | No | No | No | 2 | No |
12q24.31q-12q24.32(122844745-127838399) | |||||||||
The maximal deletion: | |||||||||
12q24.31q-12q24.32(12:122825331-127854607) | |||||||||
13 | dup12q | The minimal duplication: | VUS | Mat. inheritance | No | No | No | 1 | No |
12q24.12(12:112169989-112313658) |