TABLE 1.
No of cases | Percentage | |
---|---|---|
Total number of analyzed patients | 152 | |
Through the technique MLPA | ||
Exon deletions | 52 | 34.2 |
Deletions, one exon | 11 | 7.2 |
Deletions, multiexon | 41 | 27 |
Exon duplications | 20 | 13.2 |
Duplications, one exon | 8 | 5.3 |
Duplications, multiexon | 12 | 7.9 |
Through NGS | ||
Point mutation | 53 | 34.8 |
Nonsense | 34 | 22.4 |
Frameshift | 12 | 7.8 |
Splice site | 7 | 4.6 |
None | 27 | 17.8 |