Table 3.
Genotype/Phenotype Correlations among Patients with Type B NPD Carrying Common ASM Mutations
|
Finding for Phenotypea |
|||||
| Genotype | No. ofPatients | Average Age(years) | NeurodegenerativeCourse | Organomegaly | PulmonaryInvolvement |
| L137P/L137P | 4 | 14 | − | + | +/− |
| L137P/fsP189 | 2 | 20 | − | + | +/− |
| L549/L549 | 3 | 5 | − | ++ | ++ |
| fsP189/fsP189 | 1 | 3 | − | ++ | ++ |
| H421Y/H421Y | 11 | 5 | +/− | ++ | ++ |
| K576N/K576N | 2 | 6 | +/− | ++ | ++ |
| A196P/A196P | 2 | 37 | − | + | +/− |
| A196P/*b | 8 | 30 | − | + | +/− |
| ΔR474W/*c | 6 | 18 | − | + | +/− |
| ΔR608/ΔR608 | 9 | 17 | − | + | +/− |
| ΔR608/*d | 21 | 19 | − | + | +/− |
a
+ = present; − = absent; ++ = severe; +/− = mild.
b
Heterozygous for one of the following mutations: D49V, C157R, G245S, R289H, R376H, and C431R.
c
Heterozygous for one of the following mutations: fsL260, S379P, A485V, or R496L.
d
Heterozygous for one of the following mutations: Q21X, D49V, L225M, G245S, S379P, R441X, Y446C, P475L R494S, R496L, H575L, or R600H.