Table 1 Putative causative mutations and genes with potentially phenotype-influencing variants identified by WES in 73 LGMD patients
| Patient no. | Putative causative gene(s) | Genotype | Genes with mutations putatively influencing clinical phenotype |
|---|---|---|---|
| 20 | ANO5 | p.D81G/p.R758C | NEB, DES, TTN |
| 10 | ANO5 | p.D81G/p.W401X* | BAG3, FLNC, CHRNE, CACNA1S, TTN x2 |
| 173a | CAPN3 | c.1193+1G>A (splice site)/c.598-612delGTTCTGGAGTGCTCT | NEB x2, DNM2, TTN x2, CACNA1S |
| 424 | CAPN3 | c.598-612delGTTCTGGAGTGCTCT/p.G221S* | COL12A1, PLEC, DNM2TTN |
| 186a | CAPN3 | c.550delA/p.A609E | LDB3/ZASP x2, COL6A2, COL6A3, SGCD, POMT1, DYSF, SYNE2, MYH6, B3GALNT2 |
| 175d | CAPN3 | c.550delA/c.598-612delGTTCTGGAGTGCTCT | MYOT, SGCB, RYR1, NEB, SYNE2, TTN |
| 12 | CAPN3 | c.550delA/c.550delA | COL6A3, FLNC, NEB,TTN x2 |
| 144 | CAPN3 | c.550delA/c.550delA | DNM2, TMEM5, TTN x2 |
| 212 | CAPN3 | c.550delA/c.550delA | DYSF, TTN x6 |
| 127 | CAPN3 | c.550delA/c.550delA | RYR1, FLNC, SYNE2, TTN x4 |
| 184a | CAPN3 | c.550delA/c.550delA | HSPG2, TTN |
| 6 | CAPN3 | c.550delA/c.550delA | TRAPPC11, RYR1, LAMA2, FLNC, NEB, PPARGC, TTN, MYF6 |
| 764 | CAPN3 | c.550delA/c.1722delC | LDB3/ZASP x2, POMT1, TMEM43 |
| 18 |
CAPN3
MYH7 |
c.550delA/p.E566K p.R204H | LDB3/ZASP x2, GBE1, TTN x4, |
| TO | CAPN3 | c.550delA/p.G221S* | TRAPPC11, LIPE, GBE1, HSPG2, TTN x3 |
| 8 | CAPN3 | c.550delA/p.P82L | NEB x2, COL6A3, SYNE1 x2, TTN x5, LDB3/ZASP, HSPG2 |
| 13 | CAPN3 | c.550delA/p.R147X | COL12A1, NEB |
| 4 | CAPN3 | c.550delA/p.R355W | FLNC, SYNE1, DCTN1, TTN x3 |
| 433 | CAPN3 | c.550delA/p.R448C | COL6A3, TARDBP, TTN x2 |
| 668 | CAPN3 | c.550delA/p.T560A | PLEC x 3, SYNE1 x2, CCDC78, COL9A3, HSPG2 |
| 193a | CAPN3 | c.550delA/p.W130R* | COL6A3, NEB, HSPG2, TTN x2, GNE |
| 113 | CAPN3 | p.R748X/c.1722delC | COL6A3, RYR1, HSPG2, SYNE1 x2, DCTN1, TTN x2 |
| 144a | CAPN3 | p.R748X/c.598-612delGTTCTGGAGTGCTCT | COL6A1, COL6A3, HNRNPDL, RYR1 x2, SYNE1, MYH7, TTN x5 |
| 225 | CAPN3 | p.P102L/p.S606L | MYH3, SYNE1, SYNE2, TTN |
| 196 | COL6A2 | p.G277E* | CAV3, LAMA2, ANO5 – ITGA7, RYR1, SYNE2, TTN x3 |
| 901 |
COL6A3
CACNA1S |
p.E1386K/p.R2420W p.T349I* | NEB, TTN |
| 7 | COL6A3 | p.R2142X*/p.K2483E | FLNC |
| 275 | COL6A3 | p.T1368M/p.V2398I | DAG1, NEB, SYNE1, TTN |
| 135 | DMD | c.678-681delCTT* | RYR1, ITGA7, DYSF, CCDC78, COL9A3 |
| 275B | DNAJB6 | p.G77E | COL6A2, DAG1, DYSF, ISPD, NEB, RYR1, SYNE1, CHRNE, TTN x3 |
| 192 | DYSF | c.4821delG*/c.5058-1G>T* (splice site) | LDB3/ZASP, ANO5, PLEC, SYNE1, TTN |
| 16 | DYSF | p.D1876N/p.D1876N / c.5179delA*/c.5179delA* | FLNC, DMD, MYH6, COL9A3, NIPA1, HSPG2, TTN x2 |
| 219 | DYSF | p.D1876N/p.E1763D/c.5179del*A | PLEC x2, LDB3/ZASP x2, COL6A2, FKRP, COL12A1, TTN x3 |
| 24 (family A) | DYSF | p.Q1323E/c.5237delG* | COL6A3, MYH3, LDB3/ZASP |
| 3 (family A) | DYSF | p.Q1323E/c.5237delG* | PLEC, COL6A3 |
| 407 |
DYSF
MYH7 |
p.V374L/c.5946G>A (splice site) p.A1487T | ANO5, NEB |
| 15 | FKRP | p.L276I/c.253+2T>C (splice site) | PLEC x2, LARGE, KBTBD13, DCTN1, MYPN, TTN x2 |
| 198 | FKRP | p.L276I/c.650-667del CGCCCGCTATGTGGTGGG* | COL6A3, COL4A1, NEB x2, TTN |
| KW | FKRP | p.L276I/p.L276I | ISPD, DYSF, ITGA7, SYNE1, TTN x2 |
| 5 | FKRP | p.L276I/p.L276I | PLEC x2, COL6A3 x2, DYSF, POMGNT2, FLNC, TTN x3 |
| 102 | FKRP | p.L276I/p.L276I | COL12A1, MYH2, SYNE2, TTN |
| 84e | FKRP | p.L276I/p.P217Q* | TCAP, COL6A2, TTN x2 |
| CM | FKRP | p.L93P/p.R270C | CAPN3, DMD, NEB, SYNE1 x2, CCDC78, TTN x4 |
| 19 | LMNA | p.G523R | CAPN3, COL6A3, PLEC x3, RYR1, HSPG2, SYNE1, MYH3, LMOD3, RBM20, TNNI3K |
| 21 | SGCA | p.V247M/p.V250L* (splice site) | COL6A1, COL6A2, MYH2, LDB3/ZASP, POMT1 |
| 84a | SGCA | p.V250L* (splice site) / p.R284C | LDB3/ZASP x2, RYR1, COL6A2, COL6A3, SYNE1 |
| 157 | SGCB | p.S114F/p.I119N* | PLEC x2, TRAPPC11, HSPG2 x2, TTN |
| 201 | SGCB | p.S114F/p.S114F | PLEC x2, TRAPPC11, B3GALNT2, HSPG2, SYNE1 |
| 270a | TCAP | c.358-359delGA*/c.358-359delGA* | NEB X3, SYNE1, BVES, TTN x2 |
| 229a | TRAPPC11 | p.D26G*/p.D26G* | NEB, ITGA7, POMGNT1 |
| 448a | CAPN3, TTN (likely pathogenic fs), | ||
| 179 | CAPN3, COL6A2, DNM2, -BVES, TTN x4 | ||
| 214 | CAPN3, COL6A3, POMT2, COL12A1, TTN x2 | ||
| 191 | CAPN3, FKRP, TTN x3 | ||
| 658 | CAPN3,, MYPN, TARDBP, TTN x2 | ||
| 752 | CAPN3, POMT2, FLNC x5, NEB, HSPG2, SYNE2, TTN | ||
| 170 | CAPN3, SGCA, RYR1, CACNA1S, LDB3/ZASP, | ||
| 250a | CAPN3, SGCD, HSPG2, TTN | ||
| 130a | CAPN3, PLEC x2, SYNE1 x2, SYNE2, CACNA1S, TTN | ||
| 160a | CAPN3, BAG3, DES, NEB x2, TTN x2, CACNA1S | ||
| 128a | RYR1 x2, COL6A3 | ||
| 243 | BVES x2, SYNE1, TTN, HSPG2, HACD1 | ||
| 592 | BAG3, TMEM43, TTN x3, HSPG2 | ||
| 197 | COL6A3, ANO5, NEB, COL12A1, MYH3, SYNE1, TTN x2, SCN4A, LMNB2 | ||
| 17 | DMD, PLEC x2, LAMA2, ITGA7, MYH6, SYNE2, CACNA1S, NEB | ||
| 195 | DNM2, TRIM32, POMGNT1, FLNC, NEB, | ||
| 14 | FLNC x2, TTN x2 | ||
| 1038 | DYSF, PLEC, SYNE1, SYNE2, TTN x2 | ||
| 9 | RYR1 x2, NEB, MYH7, FLNC, TTNx2 | ||
| 155 | RYR1, ISPD, POMGNT2, COL6A2 DYSF, NEB, MYH3, TTN x3 | ||
| 11 | TRAPPC11, NEB, HSPG2 | ||
| 194 | HSPG2, TTN | ||
| 859 | CACNA1S |