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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)
  1. *Mutations are reported according to NM_001353345.1; Hg19
  2. The minimal deletion/duplication within the given start and end position
  3. The maximal deletion—without the given start and end position (between)