Table 1. Clinical characterization and mutational analysis of 10 patients with MSD.
| Clinical symptomsa | Mutation | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient No. | Disease typeb | Mental retardation | Neurodegeneration | Ichthyosis | Dysmorphism | Organomegaly | Skeletal changes | Postnatal symptoms | Heart involvement | Corneal clouding | Hydrocephalus | cDNA | Protein |
| 1 | NVS | +++ | +++ | +++ | +++ | +++ | ND | +++ | +++ | +++ | +++ | c.979C>T | p.R327X |
| c.IVS3+5-8del | p.A149_A173del | ||||||||||||
| 2 | LIS | +++ | +++ | ++ | +++ | +++ | ++ | − | − | ++ | − | c.463C>T | p.S155P |
| c.463C>T | p.S155P | ||||||||||||
| 3 | LIS | +++ | ++ | +++ | ++ | +++ | ++ | − | ND | ND | − | c.463C>T | p.S155P |
| c.463C>T | p.S155P | ||||||||||||
| 4 | LIS | +++ | +++ | ND | +++ | +++ | ND | ND | ND | − | − | c.463C>T | p.S155P |
| c.463C>T | p.S155P | ||||||||||||
| 5 | LIS | +++ | +++ | +++ | +++ | +++ | +++ | − | − | − | ++ | c.739G>C | p.G247R |
| c.739G>C | p.G247R | ||||||||||||
| 6 | LIS | +++ | ++ | +++ | +++ | +++ | − | − | +++ | − | +++ | c.739G>C | p.G247R |
| c.739G>C | p.G247R | ||||||||||||
| 7 | LIS | +++ | ++ | +++ | +++ | +++ | +++ | − | − | − | +++ | c.739G>C | p.G247R |
| c.739G>C | p.G247R | ||||||||||||
| 8 | LIS | +++ | +++ | ++ | + | ++ | +++ | +++ | + | + | + | c.1033C>T | p.R345C |
| c.1033C>T | p.R345C | ||||||||||||
| 9 | LIM | +++ | ++ | +++ | − | − | − | − | − | − | − | c.788G>T | p.G263V |
| c.788G>T | p.G263V | ||||||||||||
| 10 | LIM | +++ | ++ | + | − | − | + | − | − | − | − | c.788G>T | p.G263V |
| c.788G>T | p.G263V | ||||||||||||
a
+++, age of onset at 0–2 years of life; ++, 2–4 years; +, more than 4 years; −, symptom is missing; ND, not defined.
b
The patients were grouped into neonatal very severe (NVS), late infantile severe (LIS) and late infantile mild (LIM) forms of MSD according to manifestation and time point of appearance of each single symptom.