Figure 1
Pedigrees of the Families with Patients with
THAP1 Mutations. (A) Sequencing analysis of the THAP1 gene showing the c.289A>G (p.Gln97Ter) mutation in proband III-11 and her father (II-9). (B) Sequencing analysis of the THAP1 gene showing the c.506G>A (p.Arg169Gln) mutation in proband III-11 and her mother (II-10).
Table 1
Clinical Features of Patients with THAP1 Mutations
| Patient/Family | Sex | Mutations | Type of Dystonia | Age of Onset (Years) | Evolution (Years) | Site of Onset | Speech Disorders | Familial History |
|---|---|---|---|---|---|---|---|---|
| A III-7, Family 3 | F | p.Gln97Ter, exon 3 | Segmental (neck and oromandibular region) | 18 | 7 | Right arm | No | Grandmother (I-2) with mild involuntary movements of the face. Possibly dysarthria and dysphonia in her old age |
| B III-11, Family 3 | F | p.Gln97Ter and p.Arg169Gln, exon 3 | Generalized (trunk, neck, larynges, oromandibular region, arms and legs) | 6 | 10 | Left arm | Dysarthria and dysphonia | |
| C Sporadic | M | p.Gln97Ter, exon 3 | Generalized (trunk, neck, oromandibular region, arms and legs) | 22 | 14 | Right arm | Dysarthria | No familial history |