Table 1.
Customized NGS panel utilized for LGMD diagnosis.
| Gene | OMIM number | Locus | Phenotype (Inheritance) | Size of the target region (bp) | Exon | Transcript ID | Coverage (%) |
|---|---|---|---|---|---|---|---|
| DES | 125660 | 2q35 | Muscular dystrophy, limb-girdle, type 2R (AR) | 2,338 | 9 | ENST00000373960.3 | 100 |
| DNAJB6 | 611332 | 7q36.3 | Muscular dystrophy, limb-girdle, type 1E (AD) | 3,290 | 10 | ENST00000262177.8 | 99,91 |
| EMD | 300384 | Xq28 | Emery-Dreifuss muscular dystrophy 1 (XLR) | 1,399 | 6 | ENST00000369842.8 | 100 |
| MYOT | 604103 | 5q31.2 | Myopathy, myofibrillar, 3 or Muscular dystrophy, limb-girdle, type 1A (AD) | 2,372 | 10 | ENST00000239926.8 | 100 |
| LMNA | 150330 | 1q22 | Emery-Dreifuss muscular dystrophy 2 or Muscular dystrophy, limb-girdle, type 1B (AD) | 4,274 | 12 | ENST00000368300.8 | 99,44 |
| CAV3 | 601253 | 3p25.3 | Muscular dystrophy, limb-girdle, type 1C (AD, AR) | 1,451 | 2 | ENST00000343849.2 | 100 |
| TNPO3 | 610032 | 7q32.1. | Muscular dystrophy, limb-girdle, type 1F (AD) | 4,813 | 23 | ENST00000265388.9 | 100 |
| CAPN3 | 114240 | 15q15.1 | Muscular dystrophy, limb-girdle, type 2A (AR) | 3,922 | 24 | ENST00000397163.7 | 100 |
| DYSF | 603009 | 2p13.2 | Muscular dystrophy, limb-girdle, type 2B (AR) | 7,858 | 55 | ENST00000258104.7 | 100 |
| SGCG | 608896 | 13q12.12 | Muscular dystrophy, limb-girdle, type 2C (AR) | 1,735 | 8 | ENST00000218867.3 | 100 |
| SGCA | 600119 | 17q21.33 | Muscular dystrophy, limb-girdle, type 2D (AR) | 1,533 | 10 | ENST00000262018.7 | 100 |
| SGCB | 600900 | 4q12 | Muscular dystrophy, limb-girdle, type 2E (AR) | 4,339 | 6 | ENST00000381431.9 | 98,62 |
| SGCD | 601411 | 5q33.2-q33.3 | Muscular dystrophy, limb-girdle, type 2F (AR) | 10,234 | 9 | ENST00000337851.8 | 100 |
| TCAP | 604488 | 17q12 | Muscular dystrophy, limb-girdle, type 2G (AR) | 983 | 2 | ENST00000309889.2 | 100 |
| FKTN | 607440 | 9q31.2 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (AR) | 7,566 | 11 | ENST00000602661.5 | 99,68 |
| ANO5 | 608662 | 11p14.3 | Muscular dystrophy, limb-girdle, type 2L (AR) | 6,881 | 22 | ENST00000324559.8 | 98,75 |
| FKRP | 606596 | 19q13.32 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (AR) | 3,514 | 4 | ENST00000318584.9 | 99,37 |
| SMCHD1 | 614982 | 18p11.32 | Facioscapulohumeral muscular dystrophy 2, digenic (AD) | 9,152 | 48 | ENST00000320876.10 | 100 |
AD, Autosomal Dominant; AR, Autosomal Recessive; XLR, X-linked Recessive.