Table V.
LGMD: Common mutations with founder effects.
| Type | Gene | Exon | Hot-spot mutations (exon no.) | Populations that express mutations (ref.) | Predicted phenotype |
|---|---|---|---|---|---|
| LGMD1A | MYOT | 10 | Exon 2 | - | |
| LGMD1B | LMNA | 12 | - | - | |
| LGMD1C | CAV3 | 2 | - | - | |
| LGMD1D | DES | 9 | - | - | |
| LGMD1E | DNAJB6 | 10 | c.279C>G (E5) | Finland, Americans (13,14) | |
| LGMD2A | CAPN3 | 24 | c.550delA (E4) | Russia, Czech, Turkey (40%), Italy, UK (101,155,156) | |
| c.2362_2363delinsTCATCT (E22) | Spain (30%), Brazil (Hispanics) (92) | ||||
| c.1469G4A, p.R490Q (E11) | Italy, Turkey (10%) (155,156) | ||||
| LGMD2B | DYSF | 55 | c.937+1G>A (E10) | Japan (104) | |
| c.1566C>G, p.Y522X (E18) | Japan (104,157) | ||||
| c.2997G>T, p.W999C (E28) | Japan, China, S. Korea (104) | Homozygous, mild | |||
| c.3373delG, p.E1125KfsX1134 (E1) | Japan (104) | ||||
| c.2494C>T, p.Q832X (E24) | S. Korea (158) | ||||
| c.663+1G>C, splicing defect (E6) | S. Korea (158) | ||||
| c.2372C>G, p.p791R (E24) | Canada (natives) (159) | ||||
| c.2875C>T, p.R959W (E27) | Italy (159) | ||||
| c.5713C>T, p.R1905X (E51) | Spain (159) | ||||
| c.2779delG., p.A927LfsX21 (E26) | Caucasian Jewish population (159) | ||||
| c.4872_4876delinsCCCC (E44) | Libyan Jewish population (159) | ||||
| LGMD2C | SGCG | 8 | - | - | |
| LGMD2D | SGCA | 10 | c.229C>T, p.R77C(E3) | Europe, Finland, Brazil (160) | Homozygous, mild |
| LGMD2E | SGCB | 6 | - | - | |
| LGMD2F | SGCD | 9 | - | - | |
| LGMD2G | TCAP | 2 | c.172C>T, p.Q53X (E2) | Brazil (141) | |
| LGMD2H | TRIM32 | 2 | c.1459G>A, p.D487N (E2) | Hutterites (USA, Canada, Germany) (25,161) | |
| LGMD2I | FKRP | 4 | c.826C>A, p.L276I (E4) | Europe, American (90,95,96,162) | Homozygous, Becker like Heterozygous, Duchenne-like |
| LGMD2J | TTN | 363 | Mex6( 11-bp change) | Finland (148) | |
| LGMD2K | POMT1 | 20 | c.598G>C, p.A200P (E7) | Turkey (27) | |
| LGMD2L | ANO5 | 22 | c.191dupA, p.Asn64Lysfs*15 (E5) | Northern europeans (94) | Homogeneous phenotype |
| LGMD2M | FKTN | 11 | - | - | |
| LGMD2N | POMT2 | 21 | - | - | |
| LGMD2O | POMGnT1 | 23 | - | - | |
| LGMD2P | DAG1 | 6 | - | - | |
| LGMD2Q | PLEC | 33 | c.1_9del, p.0(E2i) | Turkey (35) |
LGMD, limb-girdle muscular dystrophies.