Table 2.
Chromosomal distribution of the most frequent CNVs exclusively detected in SALS patients.
| Chr. | Start | Stop | Lenght (bps) | SALS patients | NeuroArray-related genes |
|---|---|---|---|---|---|
| Duplications | |||||
| 1 | 19229182 | 19826022 | 596841 | 6 | ALDH4A1, UBR4 |
| 1 | 22216964 | 22222489 | 5526 | 5 | CLCNKA, CLCNKB, FBXO42, RCC2, IGSF21, HTR6, VWA5B1, CDA, PINK1, DDOST, EIF4G3, ECE1, USP48, LDLRAD2, HSPG2, APL |
| 1 | 22222489 | 22222904 | 416 | 4 | CLCNKA, CLCNKB, FBXO42, RCC2, IGSF21, HTR6, VWA5B1, CDA, PINK1, DDOST, EIF4G3, ECE1, USP48, LDLRAD2, HSPG2, APL, CDC42 |
| 1 | 22222904 | 22379326 | 156423 | 3 | CLCNKA, CLCNKB, FBXO42, RCC2, IGSF21, HTR6, VWA5B1, CDA, PINK1, DDOST, EIF4G3, ECE1, USP48, LDLRAD2, HSPG2, APL |
| 1 | 110280992 | 110467801 | 186810 | 3 | GSTM3, CSF1 |
| 1 | 165377539 | 165378926 | 1388 | 5 | LMX1A, RXRG |
| 1 | 165378926 | 165406335 | 27410 | 3 | LMX1A, RXRG |
| 2 | 127805579 | 127806098 | 520 | 3 | BIN1, LIMS2 |
| 2 | 152954807 | 152955141 | 335 | 3 | CACNB4 |
| 5 | 37824072 | 37834861 | 10790 | 4 | GDNF |
| 9 | 135810367 | 136390729 | 580363 | 3 | TSC1, RXRA, EDF1, TRAF2, ABCA2, MAN1B1, GRIN1 |
| 11 | 117263667 | 117265845 | 2179 | 3 | CEP164 |
| 17 | 8790922 | 8791519 | 598 | 3 | PIK3R5 |
| 17 | 8791519 | 8794231 | 2713 | 4 | PIK3R5 |
| 17 | 34198604 | 34415754 | 217151 | 3 (only SALS1) | CCL5, CCL3 |
| 17 | 56349278 | 56350271 | 994 | 3 | MPO |
| 19 | 50364607 | 50364748 | 142 | 5 | PNKP |
| 22 | 18907140 | 18918487 | 11348 | 3 (only SALS1) | PRODH |
| X | 62886007 | 63005325 | 119319 | 3 | ARHGEF9 |
| Chr. | Start | Stop | Size | Ratio SALS/Control | NeuroArray -related genes |
| Deletions | |||||
| 1 | 173797400 | 173826691 | 29292 | 5 | DARS2 |
| 1 | 173827623 | 174553313 | 725691 | 3 | ZBTB37, RABGAP1L |
| 1 | 207791343 | 207791566 | 224 | 3 | CR1 |
| 1 | 207793150 | 207795258 | 2109 | 6 | CR1 |
| 1 | 207795258 | 207815117 | 19860 | 7 | CR1 |
| 3 | 155560361 | 155572231 | 11871 | 4 | SLC33A1 |
| 3 | 155572231 | 156645173 | 1072943 | 3 | SLC33A1, KCNAB1, TIPARP, LEKR1 |
| 3 | 156645399 | 156660486 | 15088 | 3 | LEKR1 |
| 4 | 1810306 | 3434075 | 1623770 | 4 | FGFR3, POLN, ZFYVE28, FAM193A, NOP14, RGS12 |
| 6 | 31625489 | 31777500 | 152012 | 3 | HSPA1L |
| 6 | 31777500 | 31783348 | 5849 | 4 | HSPA1L, HSPA1A |
| 6 | 31783348 | 31797880 | 14533 | 6 | HSPA1A, HSPA1B |
| 6 | 74354308 | 74530628 | 176321 | 3 (only SALS2) | SLC17A5 |
| 8 | 94767910 | 94777676 | 9767 | 4 | TMEM67 |
| 8 | 94805417 | 94830376 | 24960 | 4 | TMEM67 |
| 9 | 39140211 | 41979303 | 2839093 | 3 | CNTNAP3, KGFLP2 |
| 9 | 125947382 | 126690362 | 742981 | 5 | STRBP, DENND2A |
| 10 | 101934013 | 101938026 | 4014 | 3 | ERLIN1 |
| 11 | 108124607 | 108155047 | 30441 | 3 | ATM |
| 15 | 63579805 | 63673002 | 93198 | 3 | APH1B, CA12 |
| 15 | 63673002 | 64226370 | 553369 | 4 | HERC1, DAPK2 |
| 16 | 70551635 | 70553577 | 1943 | 3 | COG4 |
| 21 | 44496313 | 44496400 | 88 | 3 | CBS |
| 22 | 42373034 | 42373060 | 27 | 4 | SEPT3 |
| X | 40460110 | 41599792 | 1139683 | 3 | ATP6AP2, MED14, DDX3X, CASK |
| X | 119673121 | 119676960 | 3840 | 3 | CUL4B |
The table lists the duplications and deletions that occurred in at least 10% of SALS patients and absent in the control samples. The chromosomal regions, including the start and end positions, number of SALS patients and CNV embedded NeuroArray genes are listed. Chromosomal positions are referred to the human reference sequence hg19 assembly. Genes previously identified as potential risk factors in ALS are in bold.