Table 3.
Results of the genetic testing.
| Pt | Demographic data | 1st allele | 2nd allele | ||||||
|---|---|---|---|---|---|---|---|---|---|
| Age | Gender | Origin | Exon | Transcript | Protein | Exon | Transcript | Protein | |
| 1 | 28 | F | France | 4 | c.400+2dup | p.Ala108Glufs*3 | 4 | c.400+2dup | p.Ala108Glufs*3 |
| 2 | 41 | M | France | 3 | complex rearrangement | undetermined | 3 | complex rearrangement | undetermined |
| 3 | 48 | M | Italy | - | NA | - | NA | - | |
| 4 | 48 | M | France | 1 | c.1A>G | p.Met1? | 4 | c.352G>C | p.Glu118Gln |
| 5 | 51 | M | Canada | - | NA | - | - | NA | - |
| 6 | 49 | F | Italy | - | NA | - | - | NA | - |
| 7 | 58 | F | France | 5 | c.541T>C | p.*181Argext*121 | undetermined | No mutation found | undetermined |
| 8 | 64 | M | France | 4 | c.400+2dup | p.Ala108Glufs*3 | undetermined | No mutation found | undetermined |
| 9 | 67 | F | Italy | 4 | c.400+2dup | p.Ala108Glufs*3 | undetermined | No mutation found | undetermined |
Pt, patient; F, female; M, male; NA, not available (because not performed).