Table 1.
Demographic and molecular characteristics of WDSTS cohort.
| ID | Sex | Age | Genetic Change in the KMT2A Gene (NM_001197104.2 §) | Cohort_Array Type |
|---|---|---|---|---|
| Pt.1 | m | 2 | c.5312G > A, p.(Trp1771 *) | WDSTS_EPIC |
| Pt.2 | m | 13 | c.2647G > T, p.(Glu883 *) | WDSTS_EPIC |
| Pt.3 | f | 29 | c.3635-1G > A, p.? | WDSTS_EPIC |
| Pt.4 | m | 5 | c.9068del, p.(Gln3023Argfs *3) | WDSTS_EPIC |
| Pt.5 | m | 9 | c.5572C > T, p.(Arg1858 *) | WDSTS_EPIC |
| Pt.6 | f | 4.5 | c.9001del, p.(His3001Thrfs * 15) | WDSTS_EPIC |
| Pt.7 | m | 3 | c.3464G > A, p.(Cys1155Tyr) | WDSTS_EPIC |
| Pt.8 | m | 6 | c.3740_3741del, p.(Ser1247Cysfs * 12) | WDSTS_EPIC |
| Pt.9 | f | 4 | c.3790C > T, p.(Arg1264 *) | WDSTS_EPIC |
| Pt.10 | m | 10 | c.5251A > T, p.(Lys1751 *) | WDSTS_EPIC |
| Pt.11 | m | 12 | c.3634 + 1G > A, p.? | WDSTS_EPIC |
| Pt.12 | f | 7 | c.10837C > T, p.(Gln3613 *) | WDSTS_EPIC |
| Pt.13 | m | 12 | c.3895_3896del, p.(Ser1299Profs * 26) | WDSTS_EPIC |
| Pt.14 | m | 13 | c.478C > T, p.(Arg160 *) | WDSTS_EPIC |
| Pt.15 | m * | 21.8 # | c.6735dup, p.(Val2246Serfs *2) | WDSTS_EPIC |
| Pt.16 | m * | 4 # | c.2318_2319del, p.(Pro773Leufs * 12) | WDSTS_EPIC |
| Pt.17 | f * | 3.9 # | c.3460C > T, p.(Arg1154Trp) | WDSTS_EPIC |
| Pt.18 | f * | 23.7 # | c.8532_8533del, p.(Cys2844Trpfs * 24) | WDSTS_EPIC |
| Pt.19 | m * | 14.3 # | c.11001dup, p.(Pro3668Thrfs * 8) | WDSTS_EPIC |
| Pt.20 | f * | 26.5 # | c.2605G > T, p.(Glu869 *) | WDSTS_EPIC |
| Pt.21 | m * | 15.2 # | c.10498C > T, p.(Gln3500 *) | WDSTS_EPIC |
| Pt.22 | m * | 17.2 # | c.7630G > T, p.(Glu2544 *) | WDSTS_EPIC |
| Pt.23 | m * | 6.1 # | c.10900 + 1G > A, p.? | WDSTS_EPIC |
| Pt.24 | m * | 1.1 # | c.4256G > A, p.(Gly1419Asp) | WDSTS_EPIC |
| Pt.25 | m * | 9.1 # | c.1539del, p.(Ile515Phefs * 52) | WDSTS_EPIC |
| Pt.26 | m | 17.6 # | c.3460C > T, p.(Arg1154Trp) | WDSTS_EPIC |
| Pt.27 | m | 25.7 # | c.2318dup, p.(Ser774Valfs * 12) | WDSTS_EPIC |
| Pt.28 | m | 67 | c.5431C > T, p.(Arg1811 *) | WDSTS_EPIC |
| Pt.29 | f | 10 | c.1128dup, p.(Gln377Thrfs * 12) | WDSTS_EPIC |
| Pt.30 | f | 1.9 # | c.7975C > T, p.(Arg2659 *) | WDSTS_EPIC |
| Pt.31 | f | 34.9 # | c.9538_9539del, p.(Ile3180Glnfs * 55) | WDSTS_EPIC |
| Pt.32 | m | 15.7 # | c.7438C > T, p.(Arg2480 *) | WDSTS_EPIC |
| Pt.33 | m | 10 # | c.3301C > T, p.(Arg1101 *) | WDSTS_EPIC |
| Pt.34 | m | 14 | c.4727dup, p.(Tyr1576 *) | WDSTS_EPIC |
| Pt.35 | m | 19 | c.3629_3634 + 1del, p.(Lys1211_Ala1212del) | WDSTS_EPIC |
| Pt.36 | m | 27 | c.1821_1825del, p.(Arg608Ilefs * 9) | WDSTS_EPIC |
| Pt.37 | m | 22 | c.3451C > T, p.(Arg1151 *) | WDSTS_EPIC |
| Pt.38 | m | 7 | c.7150C > T, p.(Gln2384 *) | WDSTS_EPIC |
| Pt.39 | f | 2 | c.7324G > T, p.(Glu2442 *) | WDSTS_EPIC |
| Pt.40 | f | 3 | c.10736del, p.(Leu3580 *) | WDSTS_EPIC |
| Pt.41 | m | 17 | c.4018G > T, p.(Glu1340 *) | WDSTS_EPIC |
| Pt.42 ¥,₢ | m | 19.5 # | Not available | WDSTS (testing)_ 450k |
| Pt.43 ¥ | f | 9.1 # | c.5803-1G > A, p.?+ | WDSTS (testing)_ 450k |
| Pt.44 ₢ | m | 13 | Not available | WDSTS (testing)_ 450k |
| Pt.45 ₢ | f | 2 | Not available | WDSTS (testing)_ 450k |
| Pt.46 | m | 21 | c.5806T > C, p.(Cys1936Arg) | WDSTS (testing)_EPIC |
| Pt.47 | f | 2 | c.4426T > G, p.(Cys1476Gly) | WDSTS (testing)_EPIC |
| Pt.48 | m | 4 | c.4432_4434del, p.(Arg1478del) | WDSTS (testing)_EPIC |
| Pt.49 | f | 2 | c.4171C > T, p.(Gln1391 *) | WDSTS (testing)_EPIC |
| Pt.50 €,₢ | m | 6.5 # | Not available | WDSTS (testing)_ 450k |
| Pt.51 ¥ | m | 8.5 # | c.3019G > T, p.(Gly1007Cys)+ | WDSTS (testing)_ 450k |
| Pt.52 | m | 3 | c.9575A > C, p.(Gln3192Pro) | WDSTS (testing)_EPIC |
| Pt.53 | M * | 9.4 # | c.29C > T, p.(Pro10Leu) | WDSTS (testing)_EPIC |
| Pt.54 | f | 7 | c.8545C > G, p.(Pro2849Ala) | WDSTS (testing)_EPIC |
| Pt.55 | m | 2 | c.352G > T, p.(Val118Phe) | WDSTS (testing)_EPIC |
| Pt.56 | f | 3 | c.11347_11376del, p.(Phe3783_Pro3792del) | WDSTS (testing)_EPIC |
| Pt.57 | m | 10 | c.8387G > T, p.(Gly2796Val) | WDSTS (testing)_EPIC |
| Pt.58 | m | 2 | c.100C > G, p.(Arg34Gly) | WDSTS (testing)_EPIC |
| Pt.59 | f | 25 | c.10315_10316delinsAC, p.(Gly3439Thr) | WDSTS (testing)_EPIC |
| Pt.60 | m | 2 | c.3379C > T, p.(Pro1127Ser) | WDSTS (testing)_EPIC |
¥ Downloaded from the Gene Expression Omnibus (GEO) database: GSE116300 [27]; ₢ Pt.42 had a Kabuki syndrome phenotype, and Pt. 44, Pt. 45, and Pt.50 had WDSTS syndrome phenotypes; € downloaded from the Gene Expression Omnibus (GEO) database: GSE89353 [28]; § MANE Select/Ensembl canonical transcript; * sex was predicted using minfi package; # age was predicted using wateRmelon package; + reported as de novo variant in a patient with clinically defined Kabuki syndrome [27].