Clinical characteristics of patients with SCD with CH mutations
| Sex . | Age, y . | Gene . | CDS change . | Protein change . | VAF (WES) . | VAF (amplicon) . | Follow-up, y . | HU, y . | Alive . | Events after blood sampling . |
|---|---|---|---|---|---|---|---|---|---|---|
| F | 17 | DNMT3A | c.2645G>A | p.R882H | 0.035 | 0.036 | 6.1 | 0 | Yes | Diabetes mellitus |
| F | 23 | TP53 | c.1024C>T | p.R342* | 0.258 | 0.219 | 0 | 0 | NA | Lost to follow-up |
| M | 32 | DNMT3A | c.2206C>T | p.R736C | 0.041 | 0.035 | 2.6 | 2 | Yes | Dilated cardiomyopathy, stage I CKD |
| M | 36 | DNMT3A | c.2374C>T | p.R792C | 0.044 | 0.031 | 0 | 0 | NA | Lost to follow-up |
| F | 36 | TP53 | c.659A>G | p.Y220C | 0.07 | 0.031 | 2.0 | 14 | Yes | Dilated cardiomyopathy, kidney transplantation on stage 5 CKD, diabetes mellitus, pulmonary arterial hypertension, recurrent venous thromboembolism |
| F | 38 | DNMT3A | c.2264T>C | p.F755S | 0.262 | 0.246 | 7.0 | 0 | Yes | Avascular necrosis of the femoral head |
| M | 40 | DNMT3A | c.2174_splice | 0.233 | 0.045 | 15.2 | 0 | Yes | Recurrent venous thromboembolism, covert brain infarcts, stage I CKD | |
| M | 47 | TET2 | c.1602_1605 delAAAC | p.N534fs | 0.212 | 0.219 | 7.2 | 0 | Yes | Atherosclerotic disease, diabetes mellitus |
| M | 47 | DNMT3A | c.2147T>A | p.V716D | 0.113 | NA | 11.0 | 0 | Yes | Papillary thyroid cancer, gastric cancer |
| F | 49 | ETV6 | c.204G>C | p.Q68H | 0.085 | NA | 12.9 | 0 | Yes | Stroke, type 2 diabetes mellitus |
| M | 49 | DNMT3A | c.1608C>G | p.Y536* | 0.067 | 0.016 | 2.4 | 0.3 | Yes | Dilated cardiomyopathy, recurrent leg ulcers, stage II CKD |
| F | 51 | DNMT3A | c.2644C>T | p.R882C | 0.129 | NA | 0.7 | 0 | Yes | Severe peripheral arterial disease, type 2 diabetes mellitus, diabetic neuropathy |
| M | 53 | DNMT3A | c.2062C>T | p.R688C | 0.066 | 0.034 | 7.6 | 0 | No | Prostatic adenocarcinoma. Age at death = 61 y. |
| M | 54 | DNMT3A | c.2213T>A | p.L738Q | 0.031 | 0.039 | 0.6 | 26 | No | Recurrent leg ulcers, avascular necrosis of the knees, stage III CKD. Age at death = 54 y. |
| M | 60 | IKZF1 | c.1161_1165 delGGCGT | p.E387fs | 0.025 | 0.020 | 1.7 | 5 | No | Kidney transplantation on stage V CKD due to focal segmental glomerulosclerosis and infarction, small cell lung cancer. Age at death = 62 y. |
| Sex . | Age, y . | Gene . | CDS change . | Protein change . | VAF (WES) . | VAF (amplicon) . | Follow-up, y . | HU, y . | Alive . | Events after blood sampling . |
|---|---|---|---|---|---|---|---|---|---|---|
| F | 17 | DNMT3A | c.2645G>A | p.R882H | 0.035 | 0.036 | 6.1 | 0 | Yes | Diabetes mellitus |
| F | 23 | TP53 | c.1024C>T | p.R342* | 0.258 | 0.219 | 0 | 0 | NA | Lost to follow-up |
| M | 32 | DNMT3A | c.2206C>T | p.R736C | 0.041 | 0.035 | 2.6 | 2 | Yes | Dilated cardiomyopathy, stage I CKD |
| M | 36 | DNMT3A | c.2374C>T | p.R792C | 0.044 | 0.031 | 0 | 0 | NA | Lost to follow-up |
| F | 36 | TP53 | c.659A>G | p.Y220C | 0.07 | 0.031 | 2.0 | 14 | Yes | Dilated cardiomyopathy, kidney transplantation on stage 5 CKD, diabetes mellitus, pulmonary arterial hypertension, recurrent venous thromboembolism |
| F | 38 | DNMT3A | c.2264T>C | p.F755S | 0.262 | 0.246 | 7.0 | 0 | Yes | Avascular necrosis of the femoral head |
| M | 40 | DNMT3A | c.2174_splice | 0.233 | 0.045 | 15.2 | 0 | Yes | Recurrent venous thromboembolism, covert brain infarcts, stage I CKD | |
| M | 47 | TET2 | c.1602_1605 delAAAC | p.N534fs | 0.212 | 0.219 | 7.2 | 0 | Yes | Atherosclerotic disease, diabetes mellitus |
| M | 47 | DNMT3A | c.2147T>A | p.V716D | 0.113 | NA | 11.0 | 0 | Yes | Papillary thyroid cancer, gastric cancer |
| F | 49 | ETV6 | c.204G>C | p.Q68H | 0.085 | NA | 12.9 | 0 | Yes | Stroke, type 2 diabetes mellitus |
| M | 49 | DNMT3A | c.1608C>G | p.Y536* | 0.067 | 0.016 | 2.4 | 0.3 | Yes | Dilated cardiomyopathy, recurrent leg ulcers, stage II CKD |
| F | 51 | DNMT3A | c.2644C>T | p.R882C | 0.129 | NA | 0.7 | 0 | Yes | Severe peripheral arterial disease, type 2 diabetes mellitus, diabetic neuropathy |
| M | 53 | DNMT3A | c.2062C>T | p.R688C | 0.066 | 0.034 | 7.6 | 0 | No | Prostatic adenocarcinoma. Age at death = 61 y. |
| M | 54 | DNMT3A | c.2213T>A | p.L738Q | 0.031 | 0.039 | 0.6 | 26 | No | Recurrent leg ulcers, avascular necrosis of the knees, stage III CKD. Age at death = 54 y. |
| M | 60 | IKZF1 | c.1161_1165 delGGCGT | p.E387fs | 0.025 | 0.020 | 1.7 | 5 | No | Kidney transplantation on stage V CKD due to focal segmental glomerulosclerosis and infarction, small cell lung cancer. Age at death = 62 y. |
The asterisk represents a stop codon.
CDS, coding sequence; CKD, chronic kidney disease; F, female; HU, hydroxyurea (years taken before blood sampling); M, male; NA, not applicable.