Family | Case | N° (CAG) repeat in AR (bp) | % Chromosome X inactivation |  | Clinical Diagnosis | |||
---|---|---|---|---|---|---|---|---|
Variant | A1 | A2 | A1 | A2 | ||||
10 | Proband | EDA gene deletion | 270 | 270 | NI | NI | – | HED |
10 | Monozygotic twin sister | EDA gene deletion | 270 | 270 | NI | NI | – | HED |
11 | Proband | c.729_738del7 | 286 | 290 | 74.4% | 25.6% | – | HED |
15 | Proband | c.871G > C | 274 | 277 (*) | 60% | 40% (*) | Random | HED |
15 | Mother | c.871G > C | 277 (*) | 280 | 61.6% (*) | 38.4% | Random | Normal |
16 | Proband | c.880G > T | 268 | 270 | 43.5% | 56.5% | Random | HED |
16 | Mother | (−) | 265 | 270 | 19.8% | 80.2% | Moderately skewed | Normal |
31 | Proband | c.516delC | 271 | 277 | 40% | 60% | Random | HED |
31 | Mother | (−) | 277 | 277 | NI | NI | – | Normal |
33 | Proband | Deletion of exon 1 | 277 | 294 | 80.4% | 19.6% | Moderately skewed | HED |
33 | Mother | (−) | 277 | 283 | 36% | 64% | Random | Normal |
36 | Proband | c.612delG | 286 | 292 | 76.8% | 23.3% | Random | HED |
36 | Mother | (−) | 286 | 292 | 55.9% | 44.1% | Random | Normal |