Frequency and distribution of novel variants between persons with DCML deficiency
| Patient* (tissue) . | No. of novel variants single base + indels . | No. of predicted disease-causing variants single base + indels . | No. of variant genes shared by 2 of 4 subjects single base + indels . | Identity of variant genes shared by 3 of 4 subjects (indel indicated) . | Identity of variant gene shared by 4 of 4 subjects . |
|---|---|---|---|---|---|
| 1 (fibroblasts) | 803 + 160 | 172 + 25 | 13 + 3 | ADAMTS3; DNMBP; GATA2; (indel) PLEC; RNF160 | GATA2 |
| 2 (fibroblasts) | 733 + 120 | 172 + 18 | 18 + 2 | ADAMTS3; DNMBP; GATA2; PLEC; RNF160 | GATA2 |
| 3 (fibroblasts) (neutrophils) | 1046 + 272 774 + 113 | 243 + 40 213 + 29 | 15 + 2 | ADAMTS3; GATA2; GATA2 | |
| 4 (fibroblasts) (neutrophils) | 1827 + 115 1871 + 97 | 342 + 22 348 + 22 | 18 + 3 | DNMBP; GATA2; PLEC; RNF160 | GATA-2 |
| Patient* (tissue) . | No. of novel variants single base + indels . | No. of predicted disease-causing variants single base + indels . | No. of variant genes shared by 2 of 4 subjects single base + indels . | Identity of variant genes shared by 3 of 4 subjects (indel indicated) . | Identity of variant gene shared by 4 of 4 subjects . |
|---|---|---|---|---|---|
| 1 (fibroblasts) | 803 + 160 | 172 + 25 | 13 + 3 | ADAMTS3; DNMBP; GATA2; (indel) PLEC; RNF160 | GATA2 |
| 2 (fibroblasts) | 733 + 120 | 172 + 18 | 18 + 2 | ADAMTS3; DNMBP; GATA2; PLEC; RNF160 | GATA2 |
| 3 (fibroblasts) (neutrophils) | 1046 + 272 774 + 113 | 243 + 40 213 + 29 | 15 + 2 | ADAMTS3; GATA2; GATA2 | |
| 4 (fibroblasts) (neutrophils) | 1827 + 115 1871 + 97 | 342 + 22 348 + 22 | 18 + 3 | DNMBP; GATA2; PLEC; RNF160 | GATA-2 |
Numbering as in Bigley et al.1