Table 1.
Phenotype comparison between the patient described in this study and other patients with variants in YARS or HARS2.
| This Study | Nowaczyk et al. | DI-CMT Syndrome | Perrault Syndrome 2 | ||
|---|---|---|---|---|---|
| Patient no. | II:1 | Sibling 1 | Sibling 2 | Multiple patients | Multiple patients |
| Gender | F | M | F | F/M | F |
| Mutations | YARS p.(F269S)/p.(F269S) | YARS p.(P213L)/p.(G525R) | YARS p.(P213L)/p.(G525R) | YARS p.(G41R)/+ p.(E196K)/+ p.(D81I)/+ p.(V153_V156del)/+ | HARS2 (Many) |
| Abnormality of corpus callosum | +++ (Agenesis) | + (Thinning) | - | - (Thinning observed in other forms of CMT) | - |
| Fatty liver | + (Transient) | ++ | ++ | - | - |
| Specific facial features | - | + | + | - | - |
| Hypotonia | + | + | + | + | - |
| Retnititis pigmentosa | + | - | - | - | + |
| Deafness | + | - | - | - | + |
| Primary amenorrhea | + | n.a. | n.d. | - | + |
DI-CMT: dominant intermediate Charcot-Marie-Tooth disease; n.a.: not available, n.d.: not determined.