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Table 1 Comparison of the clinical characteristics and genotypes of previously reported patients who share at least one mutation with the present case

From: An uncommon inheritance pattern in Niemann-Pick disease type C: identification of probable paternal germline mosaicism in a Mexican family

  Present case Meiner et al. 2001 [5] Xiong et al. 2012 [6] Jahnova et al. 2014 [7] Piña et al. 2014 [8]
Case 1 2 3 4 5 6 7
Age at onset 9 years 20 years 8.5 years 14 years (sibling of cases 5 and 6) 27 years (sibling of cases 4 and 6) 20 years (sibling of cases 4 and 5) 24 years
Gender Male Male Male Male Female Female Female
Family consanguinity - + - - - - -
Progressive clumsiness + - + - - - +
VSGP + + - - - - +
Dysarthria + + + + - - -
Cataplexy + - - - - - -
Ataxia + + + - - - +
Splenomegaly + + - + + + +
Cerebellar atrophy - NR + NR NR NR +
Behavioral anomalies + - - + + + +
Depression - - - - + - +
Schizophrenia - - - - - + +
Bone marrow aspiration Blue histiocytes Blue histiocytes Blue histiocytes NR Blue histiocytes NR Foamy histiocytes
NP-C index suspicion score [11] at diagnosis 142 points NR NR NR NR NR 227 points
Filipin staining “Variant”a Positive Not performed “Variant”a “Variant”a “Variant”a Positive
NPC1 genotype c.[1042C > T];[2780C > T] or p.[Arg348*];[Ala927Val] c.[2780C > T];[2780C > T] or p.[Ala927Val];[Ala927Val] c.[2777C > T];[2780C > T] or p.[Ala926Val];[Ala927Val] c.[2780C > T];[2780C > T] or p.[Ala927Val];[Ala927Val] c.[2780C > T];[2780C > T] or p.[Ala927Val];[Ala927Val] c.[2780C > T];[2780C > T] or p.[Ala927Val];[Ala927Val] c.[1042C > T];[3493G > A] or p.[Arg348*];[Val1165Met]
Family NPC1 studies Mother and healthy sister: obligate p.(Ala927Val) and p.(Arg348*) carriers, respectively
Father: germline mosaicism for c.1042C > T (p.Arg348*) variant
NR NR NR NR NR NR
  1. aThe “variant” filipin fibroblast profile of NP-C refers to situations in which supplementation with pure low-density lipoproteins yields a less intense and non-uniform pattern of perinuclear fluorescent vesicles in cells. This phenotype makes it impossible to establish an accurate percentage of NP-C “positive” cells. Moreover, the presence of these “variant” phenotype cells within total human serum causes the filipin staining pattern to overlap even further with the normal to very mildly abnormal perinuclear fluorescent vesicle distribution characteristic of NP-C [4]
  2. Abbreviations: NR not reported, VSGP vertical supranuclear gaze paralysis, (+) present, and (-) absent