Table 4 Most frequent pathogenic variants found by gene in Latin America (Top 25; N = 335 variants)
Rank | Gene | Status | DNA Variant | Protein |
|---|---|---|---|---|
1 | DYSF | Pathogenic | c.5979dupA (n = 38) | (p.Glu1994Argfs*3) |
2 | SGCA | Pathogenic | c.229C > T (n = 29) | (p.Arg77Cys) |
3 | GAA | Pathogenic | c.-32-13 T > G (n = 24) | p.? |
4 | CAPN3 | Pathogenic | c.2362_2363delAGinsTCATCT (n = 18) | (p.Arg788Serfs*14) |
5 | SGCA | Pathogenic | c.850C > T (n = 18) | (p.Arg284Cys) |
6 | TCAP | Pathogenic | c.157C > T (n = 18) | (p.Gln53*) |
7 | ANO5 | Pathogenic | c.172C > T (n = 15) | (p.Arg58Trp) |
8 | SGCA | VUS | c.421C > A (n = 13) | (p.Arg141Ser) |
9 | DYSF | Pathogenic | c.5429G > A (n = 13) | (p.Arg1810Lys) |
10 | DYSF | VUS | c.1402C > T (n-12) | (p.Arg468Cys) |
11 | DYSF | VUS | c.2281G > A (n = 11) | (p.Gly761Ser) |
12 | CAPN3 | Pathogenic | c.328C > T (n = 11) | (p.Arg110*) |
13 | SGCG | Pathogenic | c.525del (n = 11) | (p.Phe175Leufs*20) |
14 | DYSF | Pathogenic | c.2777del (n = 11) | (p.Ala927Leufs*21) |
15 | CAPN3 | VUS | c.2257G > A (n = 10) | (p.Asp753Asn) |
16 | ANO5 | Pathogenic | c.692G > T (n = 8) | (p.Gly231Val) |
17 | TCAP | VUS | c.37_39del (n = 8) | (p.Glu13del) |
18 | FKRP | Pathogenic | c.826C > A (n = 7) | (p.Leu276Ile) |
19 | CAPN3 | Pathogenic | c.1466G > A (n = 7) | (p.Arg489Gln) |
20 | CAPN3 | Pathogenic | c.1468C > T (n = 6) | (p.Arg490Trp) |
21 | GAA | Pathogenic | c.2238G > C (n = 6) | (p.Trp746Cys) |
22 | CAPN3 | Pathogenic | c.223dup (n = 6) | (p.Tyr75Leufs*5) |
23 | ANO5 | Pathogenic | c.1359C > G (n = 5) | (p.Tyr453*) |
24 | FKRP | Pathogenic | c.1387A > G (n = 5) | (p.Asn463Asp) |
25 | ANO5 | VUS | c.155A > G (n = 5) | (p.Asn52Ser) |