Selected genetic and phenotypic characteristics of germline RUNX1 mutation carriers
| Family . | ID . | Sex . | Age,* y . | Germline variant genomic (hg37) . | Germline variant cDNA NM_001754.4 (RUNX1c) . | Germline variant NP_001745.2 (RUNX1c) . | Platelet counts, ×109/L (age, y) . | Hematological malignancies (dx age, y) . | Nonhematological phenotypes (dx age, y) . |
|---|---|---|---|---|---|---|---|---|---|
| 1 | III-2 | F | 22 | 21:36319974_37047568del | c.-626163_59-54714del | p.? | Thr nos | MDS-EB-2 (21) | |
| 2 | II-1 | F | 74 | 21:36298117_36 250352del | c.59-32 857_508+2502del | p.E20-G170del | 50-110 (40s) | MDS (65), AML (74) | BrCa (64), colon polyps (73) Keratosis pilaris |
| 2 | III-1 | M | 50 (d) | 21:36298117_36 250352del | c.59-32 857_508+2502del | p.E20-G170del | 134 (43) | MDS/AML (49), AML relapse (50) | Keratosis pilaris |
| 2 | III-4 | F | 48 | 21:36298117_36 250352del | c.59-32 857_508+2502del | p.E20-G170del | 88 (46) | — | BrCa (47), asthma eczema (childhood) |
| 3 | III-3 | F | — | 21:36259156 AG>A | c.334delC | p.L112Cfs*10 | 100 | MDS (49) | — |
| 4 | II-3 | F | 45 | 21:36252856 C>A | c.506G>T | p.R169I | Thr nos | AML (45) | — |
| 4 | II-4 | F | 42 | 21:36252856 C>A | c.506G>T | p.R169I | Thr nos | AML (37), FAB M2; AML relapse (38). | — |
| 4 | II-5 | F | 50 | 21:36252856 C>A | c.506G>T | p.R169I | 135 (37) | — | |
| 5 | II-2 | M | 65 | 21:36231791 T>A | c.593A>T | p.D198V | 94 (59) | MPN (62); CLL/SLL (63) | — |
| 7 | II-1 | M | — | 21:36231773 C>T | c.611G>A | p.R204Q | 130 (54) | MDS-EB-2 (56); AML (56) | Psoriasis |
| 7 | II-2 | M | 60 (d) | 21:36231773 C>T | c.611G>A | p.R204Q | — | MDS/AML(58) | — |
| 7 | III-1 | F | 25 (d) | 21:36231773 C>T | c.611G>A | p.R204Q | — | T-ALL (22); MDS-EB-1 (24); AML(24) | — |
| 7 | III-2 | F | — | 21:36231773 C>T | c.611G>A | p.R204Q | Thr nos | Acute leukemia (28) | — |
| 8 | II-1 | M | 58 (d) | 21:36171607 G>A | c.958C>T | p.R320* | Thr nos | MDS-EB-1 (58) | — |
| 8 | III-1 | F | 40 | 21:36171607 G>A | c.958C>T | p.R320* | 100-140 (33) | — | — |
| 9 | IV-1 | F | 57 (d) | 21:36171607 G>A | c.958C>T | p.R320* | 11-75 (51) | MDS/AML (54) | — |
| 9 | IV-2 | M | 63 | 21:36171607 G>A | c.958C>T | p.R320* | 80-101 (60) | MDS (61) | Psoriasis, arthritis |
| 9 | IV-5 | M | 42 (d) | 21:36171607 G>A | Obligate carrier | — | — | NHL (38); ALL (40) | — |
| 9 | IV-7 | F | 66 | 21:36171607 G>A | c.958C>T | p.R320* | 143 (58) 110 (66) | — | Melanoma, psoriasis |
| 9 | IV-8 | F | 58 | 21:36171607 G>A | c.958C>T | p.R320* | 137 (57) | — | Psoriasis, arthritis |
| 9 | V-1 | M | 28 | 21:36171607 G>A | c.958C>T | p.R320* | 103 (31) | — | Warts, asthma |
| 9 | V-5 | F | 38 | 21:36171607 G>A | c.958C>T | p.R320* | 124 (31) post-SCT | T-ALL (3) | Eczema, psoriasis |
| 9 | V-7 | M | 31 | 21:36171607 G>A | c.958C>T | p.R320* | Thr nos | ALL (31) | — |
| 10 | II-2 | M | 33 | 21:36164917 G>T | c.968-10C>A | p.A324Lfs*7 | Thr nos | T-NHL(30); tMDS (32) | — |
| Family . | ID . | Sex . | Age,* y . | Germline variant genomic (hg37) . | Germline variant cDNA NM_001754.4 (RUNX1c) . | Germline variant NP_001745.2 (RUNX1c) . | Platelet counts, ×109/L (age, y) . | Hematological malignancies (dx age, y) . | Nonhematological phenotypes (dx age, y) . |
|---|---|---|---|---|---|---|---|---|---|
| 1 | III-2 | F | 22 | 21:36319974_37047568del | c.-626163_59-54714del | p.? | Thr nos | MDS-EB-2 (21) | |
| 2 | II-1 | F | 74 | 21:36298117_36 250352del | c.59-32 857_508+2502del | p.E20-G170del | 50-110 (40s) | MDS (65), AML (74) | BrCa (64), colon polyps (73) Keratosis pilaris |
| 2 | III-1 | M | 50 (d) | 21:36298117_36 250352del | c.59-32 857_508+2502del | p.E20-G170del | 134 (43) | MDS/AML (49), AML relapse (50) | Keratosis pilaris |
| 2 | III-4 | F | 48 | 21:36298117_36 250352del | c.59-32 857_508+2502del | p.E20-G170del | 88 (46) | — | BrCa (47), asthma eczema (childhood) |
| 3 | III-3 | F | — | 21:36259156 AG>A | c.334delC | p.L112Cfs*10 | 100 | MDS (49) | — |
| 4 | II-3 | F | 45 | 21:36252856 C>A | c.506G>T | p.R169I | Thr nos | AML (45) | — |
| 4 | II-4 | F | 42 | 21:36252856 C>A | c.506G>T | p.R169I | Thr nos | AML (37), FAB M2; AML relapse (38). | — |
| 4 | II-5 | F | 50 | 21:36252856 C>A | c.506G>T | p.R169I | 135 (37) | — | |
| 5 | II-2 | M | 65 | 21:36231791 T>A | c.593A>T | p.D198V | 94 (59) | MPN (62); CLL/SLL (63) | — |
| 7 | II-1 | M | — | 21:36231773 C>T | c.611G>A | p.R204Q | 130 (54) | MDS-EB-2 (56); AML (56) | Psoriasis |
| 7 | II-2 | M | 60 (d) | 21:36231773 C>T | c.611G>A | p.R204Q | — | MDS/AML(58) | — |
| 7 | III-1 | F | 25 (d) | 21:36231773 C>T | c.611G>A | p.R204Q | — | T-ALL (22); MDS-EB-1 (24); AML(24) | — |
| 7 | III-2 | F | — | 21:36231773 C>T | c.611G>A | p.R204Q | Thr nos | Acute leukemia (28) | — |
| 8 | II-1 | M | 58 (d) | 21:36171607 G>A | c.958C>T | p.R320* | Thr nos | MDS-EB-1 (58) | — |
| 8 | III-1 | F | 40 | 21:36171607 G>A | c.958C>T | p.R320* | 100-140 (33) | — | — |
| 9 | IV-1 | F | 57 (d) | 21:36171607 G>A | c.958C>T | p.R320* | 11-75 (51) | MDS/AML (54) | — |
| 9 | IV-2 | M | 63 | 21:36171607 G>A | c.958C>T | p.R320* | 80-101 (60) | MDS (61) | Psoriasis, arthritis |
| 9 | IV-5 | M | 42 (d) | 21:36171607 G>A | Obligate carrier | — | — | NHL (38); ALL (40) | — |
| 9 | IV-7 | F | 66 | 21:36171607 G>A | c.958C>T | p.R320* | 143 (58) 110 (66) | — | Melanoma, psoriasis |
| 9 | IV-8 | F | 58 | 21:36171607 G>A | c.958C>T | p.R320* | 137 (57) | — | Psoriasis, arthritis |
| 9 | V-1 | M | 28 | 21:36171607 G>A | c.958C>T | p.R320* | 103 (31) | — | Warts, asthma |
| 9 | V-5 | F | 38 | 21:36171607 G>A | c.958C>T | p.R320* | 124 (31) post-SCT | T-ALL (3) | Eczema, psoriasis |
| 9 | V-7 | M | 31 | 21:36171607 G>A | c.958C>T | p.R320* | Thr nos | ALL (31) | — |
| 10 | II-2 | M | 33 | 21:36164917 G>T | c.968-10C>A | p.A324Lfs*7 | Thr nos | T-NHL(30); tMDS (32) | — |
Age at last date of contact or deceased (d).
FAB, French-American-British subtype; Thr nos, thrombocytopenia not otherwise specific.