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Table 1 Mutational and biochemical features of NP-C patients with two NPC1 mutations

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 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
  1. Mutations were described according to the latest HGVS recommendations (http://www.hgvs.org/mutnomen); ChT chitotriosidase (ChT activity of heterozygous individuals [dup24] was 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)