Patient identification | Gender | Age at diagnosis | Signs/Symptoms at diagnosis | Diagnostic tests NPC1 filipin/Genotype | Miglustat treatment |
---|---|---|---|---|---|
SEQ1 | Female | 3 years | Splenomegaly, pancytopenia, cognitive impairment | Cultured fibroblast, positive filipin; genotype heterozygous for c.1920delG exon 12 and IVS9 c.1554-1009G > A missense mutation | yes |
SEQ2 | Female | 3 years | Splenomegaly, pancytopenia, cognitive impairment | Cultured fibroblast, positive filipin; genotype heterozygous for c.1920delG exon 12 and IVS9 c.1554-1009G > A missense mutation | yes |
SEQ3 | Female | 7 years | Cognitive impairment | Cultured fibroblast, equivocal filipin; genotype heterozygous for c.1552C > T, p.R518W (p.ARG518Trp) in exon 9 and c.2594C > T, p.5865 L (p.Ser865Leu) in exon 17 | yes |
SEQ4 | Female | 5 years | Ataxia | Cultured fibroblast, equivocal filipin; genotype heterozygous for c.1552C > T, p.R518W (p.ARG518Trp) in exon 9 and c.2594C > T, p.5865 L (p.Ser865Leu) in exon 17 | yes |
SEQ5 | Male | 10 years | Dysarthria, cognitive impairment, anxiety, hypotonia, VSGP | Cultured fibroblast, positive filipin; genotype heterozygous for R978C missense and IVS21–2 A > G splice site mutation | yes |
SEQ6 | Female | 7 years | Splenomegaly, VSGP | Cultured fibroblast, positive filipin; genotype heterozygous for R978C missense and IVS21–2 A > G splice site mutation | Yes |
SEQ7 | Male | 2 years | Neonatal hepatosplenomegaly, conjugated hyperbilirubinemia, hypotonia, global developmental delay, failure to thrive | Cultured fibroblast, positive filipin; Genotype heterozygous for c.2008_2011delITGCT and c.3565_3566insG | yes |
SEQ8 | Female | 1 year | Liver dysfunction, cholestatic jaundice, hepatosplenomegaly, developmental delay | Genotype heterozygous for c.2213C > A and c.3234_3237dupATTT | Yes |
SEQ9 | Female | 20 years | Cognitive decline, ataxia, hepatosplenomegaly | Cultured fibroblast, positive filipin; Genotype heterozygous for c.688_69delTCTGTG and c.3182 T > C | No |
IV1 | Female | 8 months | Hepatosplenomegaly, liver fibrosis, difficulty feeding | Cultured fibroblast, positive filipin; Genotype heterozygous for p.I923V and A1151T (c.2767A > G/3541G > A) | No |
IV2 | Male | 15 years | Hepatosplenomegaly, behavioral disturbance, epilepsy, cognitive decline | LS-509 biomarker normal; Confirmed NPC1 gene mutation, results not available | yes |
IV3 | Female | 16 years | Liver dysfunction at birth, hepatosplenomegaly, schizophrenia | LS-509 biomarker increased; genotype not available | yes |