Table 1 Mutational and biochemical features of NP-C patients with two NPC1 mutations
Patient ID | Variant allele 1 amino acid | Variant allele 1 reference | Variant allele 2 amino acid | Variant allele 2 reference | CCL18/PARC ng/mL | ChT(dup24) nmol/mL.h | NP-C SI score | Filipin staining | 7-KC ng/mL | Clinical form |
|---|---|---|---|---|---|---|---|---|---|---|
Period 1 | ||||||||||
NPC1A | p.(Gln775Pro) | [32] | p.(Asp1097Asn) | [31] | 156 | 188 (Het) | 145 | ND | 260 | Adult |
NPC2A | p.(Arg1059*) | [30] | p.(Arg1059*) | [30] | 788 | 1045 (Neg) | NC (<4 y.o.) | Classical | 650 | Early infantile |
NPC3A | p.(Pro1007Ala) | [36] | p.(Asn222Ser) | [34] | 88 | 266 (Neg) | 60 | Variant | 103 | Adult |
NPC4A | p.(Arg518Trp) | [35] | p.(Gly992Trp) | [36] | 151 | 244 (Neg) | 195 | ND | 213 | Adult |
NPC5A | p.(Trp942Cys) | [30] | p.(Arg1173Gly) | New | 266 | 156 (Het) | 95 | ND | 178 | Adult |
Period 2 | ||||||||||
NPC6A | p.(Arg372Trp) | [30] | p.(Thr1036Met) | [2] | 466 | 415 (Neg) | 20 | ND | 238 | Adult |
NPC7A | p.(Glu1188 fs*54) | [30] | p.(Thr375Ala) | New | 265 | 75 (Neg) | 200 | ND | 398 | Adult |
NPC8A | p.(Ile1061Thr) | [17] | p.(Ile1061Thr) | [17] | 1137 | 1477 (Neg) | NC (<4 y.o.) | ND | 514 | Early infantile |
NPC9A | p.(Cys177Tyr) | [35] | p.(Val664Met) | [34] | 516 | 614 (Neg) | 190 | Classical | 193 | Adult |
NPC10A | p.(Leu107Cfs*5) | [32] | p.(Glu61 + ?_Asp211 + ?)dup | New | 1048 | 812 (Het) | NC (<4 y.o.) | Classical | 761 | Early infantile |