No. | Relation | Gender | Age | Symptom | FLG c.3321delA | STS Exon 1–10 Del |
---|---|---|---|---|---|---|
II-1 | Mother | Female | 70 | Obvious | Heterozygous | Heterozygous |
II-2 | Father | Male | 69 | Normal | Wild type | Wild type |
III-1 | First sister | Female | 40 | Slight | Heterozygous | Wild type |
III-3 | Second sister | Female | 37 | Obvious | Heterozygous | Heterozygous |
III-5 | Third sister | Female | 33 | Obvious | Not available | Not available |
III-6 | Proband | Male | 31 | Obvious | Heterozygous | Hemizygous |
IV-1 | Son of III-1 | Male | 12 | Slight | Heterozygous | Wild type |
IV-4 | Son of III-3 | Male | 4 | Normal | Heterozygous | Wild type |