Table 1.
Genotypic and phenotypic characterization of investigated individuals.
| Code | Sex | Age of onset (year) | Mutation | Clinical status | ||
|---|---|---|---|---|---|---|
| DNA | Protein | |||||
| Mutants | Pt1 | F | 35 | c.714C>G c.823C>T |
p.C238W p.R275W | Affected |
| Pt2 | M | 41 | c.101_102delAG c.101_102delAG |
p.Q34R*5 p.Q34R*5 | Affected | |
| Pt3 | F | 37 | Deletion ex1 c.823C>T |
No transcript/protein p.R275W | Affected | |
| Pt4 | F | 14 | Duplication ex2 Deletion ex3-4-5 |
No transcript/protein p.N58_A206del | Affected | |
| Controls | Ct1 | F | / | None | Unaffected | |
| Ct2 | F | / | None | Unaffected | ||
| Ct3 | M | / | None | Unaffected | ||
| Ct4 | F | / | None | Unaffected | ||
Refseqs used: NM_004562.2 (for DNA), NP_004553.2 (for protein). Exon (ex) deletion and duplication at DNA level were detected by MLPA dosage kits.