Table 2B.
Frequently mutated genes in MAS.
| Howitt et al. (15) | Piscuoglio et al. (14) | This study | Total | Protein coding changes | ||
|---|---|---|---|---|---|---|
| Cases (No.) | 18 | 19 | 29 | 66 | ||
| KMT2C | chr7 | 11% (2/19) | 52% (15/29) | 35% (17/48) | p391(Cys < ns), p384 (Asp < Asn), p380 (Arg < Leu), p309 (Pro < Ser) | |
| MAGEC1* | chrX | 34% (10/29) | 34% (10/29) | p176 (Val < Leu), p178 (Ile < Leu), p232 (Pro < Ser), p260 (Phe < Ser), p267 (Ser < Pro), p292 (Gln < His), p302 (Pro < Leu), p447 (Val < Gly) | ||
| DCHS2* | chr4 | 31% (9/29) | 31% (9/29) | p2824 (Pro < Ala), p2820 (Val < fs), p1602 (Thr < Ala), p1438 (Arg < Leu) | ||
| AHNAK* | chr11 | 28% (8/29) | 28% (8/29) | p3378 (Ile < Thr), p2182 (Thr < Ala) | ||
| KDM6B* | chr17 | 28% (8/29) | 28% (8/29) | p221 (Glu < Asp), p308 (Ser < Leu), p340 (Arg < Pro), p444 (Ser < Gly), p482 (Pro < Ser), p511 (Pro < His), p968 (Val < Gly), p1643 (Arg < Cys) | ||
| FCGBP* | chr19 | 24% (7/29) | 24% (729) | p4950 (Arg < Gln), p2640 (Glu < Lys), p2433 (His < Tyr), p1343 (Ala < Val), p1333 (Gly < Arg), p645 (Gly < Glu) | ||
| ANP32E* | chr1 | 21% (6/29) | 21% (6/29) | p47 (Gly < fs), p46 (Tyr < fs), p164 (Glu < Glu) | ||
| MCM9* | chr6 | 21% (6/29) | 21% (6/29) | p1093 (Met < Val), p898 (Ser < Phe), p816 (Glu < Asp) | ||
| NCOA2* | chr8 | 21% (6/29) | 21% (6/29) | p1363 (Gly < Arg), p653 (Glu < Val), p407 (Ala < Ser) | ||
| ANKRD30A* | chr10 | 21% (6/29) | 21% (6/29) | p274 (Ser < Pro), p276 (Val < Ala), p426 (Cys < Trp) | ||
| BCOR | chrX | 22% (4/18) | 21% (6/29) | 21% (10/47) | c.4977-4G>T splice site | |
| DNAH10 | chr12 | 5% (1/19) | 21% (6/29) | 16% (7/48) | p1186 (Glu < Lys), p1489 (Met1 < ns), p1896 (Val < Met), p2735 (Gln < His), p3115 (Lys < Glu), p3620 (Thr < Ile) | |
| GLI3 | chr7 | 11% (2/18) | 10% (3/29) | 11% (5/47) | p1028 (Ser < Ile), p727 (Gly < Arg), p45 (Ser < Arg) | |
| EXT2 | chr11 | 11% (2/18) | 10% (3/29) | 11% (5/47) | p161 (Arg < Trp), p369 (Val < Met), p426 (Arg < Gln | |
| ROS1 | chr6 | 17% (3/18) | 7% (2/29) | 11% (5/47) | p1054 (Ser < Arg), p894 (Arg < Trp), p827 (Trp < Leu) | |
| SEC16A | chr9 | 5% (1/19) | 14% (4/29) | 10% (5/48) | p641 (Arg < Cys), p346 (Arg < His) | |
| ATRX | chrX | 17% (3/18) | 5% (1/19) | 7% (2/29) | 10% (6/66) | p1752 (Gln < Pro), p865 (His < Gln) |
*
Newly identified in this study.