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Table 1 Putative causative mutations and genes with potentially phenotype-influencing variants identified by WES in 73 LGMD patients

From: Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy 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
  1. *Indicates novel variants; RefSeq transcript reference sequences as in the LOVD database: ANO5 - NM_213599.2, CACNA1S - NM_000069.2, CAPN3 - NM_000070.2, COL6A2 - NM_001849.3, COL6A3 - NM_004369.3, DMD - NM_004006.2, DNAJB6 - NM_058246.3, DYSF - NM_003494.3, FKRP - NM_024301.4, LMNA - NM_170707.3, MYH7 - NM_000257.2, SGCA - NM_000023.2, SGCB - NM_000232.4, TCAP - NM_003673.3, TRAPPC11 - NM_021942.5