Table 2 Mutational and biochemical features of ‘NP-C uncertain’ patients with only one NPC1 mutation
Patient ID | Variant allele 1 amino acid | Variant allele 1 reference | CCL18/PARC ng/mL | ChT (dup24) nmol/mL.h | NP-C SI score | Filipin staining | MLPA | 7-KC ng/mL | Clinical form |
|---|---|---|---|---|---|---|---|---|---|
Period 1 | |||||||||
NPC1B | p.(Leu846Pro) | New | 233 | 109 (Neg) | 55 | Variant | Negative | 134 | Adult |
NPC2B | p.(Phe1221Sfs*20) | [30] | 123 | 53 (Neg) | 60 | Classical | Negative | 34 | Adult |
NPC3B | p.(Gln775Pro) | [32] | 198 | 167 (Neg) | 55 | Classical | Negative | <2 | Adult |
Period 2 | |||||||||
NPC4B | p.(Arg1274Trp) | New | ND | ND | NC (<4 y.o.) | Variant | Negative | ND | Early infantile |
NPC5B | p.(Glu451Lys) | [36] | 550 | 771 (Neg) | NC (<4 y.o.) | Variant | Negative | 258 | Early infantile |
NPC6B | p.(Asn222Ser) | [34] | 138 | 59 (Neg) | NC (<4 y.o.) | Variant | Negative | 150 | Late infantile |
NPC7B | p.(Gln775Pro) | New | 416 | 132 (Neg) | 101 | Variant | Negative | 125 | Adult |
NPC8B | p.(Gln775Pro) | [32] | 39 | 24 (Neg) | 120 | Variant | Negative | 19 | Juvenile |