Table 1 Clinical phenotypes of patients with TPM2 and PIEZO2 gene mutations in two families
| Â | Family 1 | Family 2 | |||||
|---|---|---|---|---|---|---|---|
II-5 | III-1 | III-3 | II-5 | I -1 | II-2 | III-1 | |
Age/Sex | 59/M | 35/F | 32/F | 37/M | 65/M | 42/F | 11/M |
Decreased facial expression | – | – | – | – | – | – | – |
Ptosis/Limited ocular motility | + | – | – | – | – | – | – |
Ear deformity | – | – | – | – | – | – | – |
Small pursed mouth | + | – | – | – | – | – | – |
Trismus | – | – | – | – | – | – | – |
Cleft palate | – | – | – | – | – | – | – |
Nasolabial folds | + | – | – | – | – | – | – |
Triangularly shaped face | + | – | – | – | – | – | – |
Finger contractures | + | + | + | + | + | + | + |
Camptodactyly | + | + | + | + | + | + | + |
Elbow contractures | + | – | – | – | – | – | – |
Limited wrist extension | + | – | – | – | – | – | – |
Asymmetric legs/feet | – | – | – | – | – | – | – |
Clubfeet | + | + | + | + | + | + | + |
Scoliosis | – | – | – | – | – | – | – |
Short stature | + | – | – | + | + | + | ND |
Muscle weakness | – | – | ND | – | – | – | – |
Sensorineural hearing loss | – | – | – | – | – | – | – |
Pain problems | – | – | – | – | – | – | – |
Surgical operations | + | + | ND | – | – | – | – |
Additional symptoms | – | – | ND | – | – | – | – |
Radiographs | – | – | – | + | – | – | + |
DA classification | DA2B | DA1 | |||||
Disease-causing mutation | TPM2: c.308A > G | PIEZO2:c.8153G > A | |||||