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Table 2 Mutational and biochemical features of ‘NP-C uncertain’ patients with only one NPC1 mutation

From: Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study

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
  1. Mutations were described according to the latest HGVS recommendations (http://www.hgvs.org/mutnomen); ChT chitotriosidase (ChT activity of heterozygous individuals [dup24] multiplied by two), NC not conducted (patient <4 years old), ND no data available, Neg negative, 7-KC 7-ketocholesterol, LOD limit of detection (=2 ng/mL)