Table 4 Characteristics of Caucasian patients with Gaucher disease (GD) and Niemann-Pick type C (NPC) disease examined in this study.

From: Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes

Patient

Disease type

Age at skin biopsy

Sex

Gene

Genotype*

1

GD 1

43 yr.

M

GBA

[N370S] + [L444P]

2

GD 2

3 mo.

F

GBA

[D399N] + [L444P]

3

GD 3

1 yr. 9 mo.

F

GBA

[D448G] + [R202X]

4

GD 2

8 mo.

M

 

n.a.

5

GD 1

52 yr.

M

 

n.a.

1

NPC, infantile

2 yr.

F

NPC1

p.[C31WfsX26] + [C31WfsX26]

2

NPC, infantile

5 yr.

F

NPC1

p.[H512R] + [Y1019C]

3

NPC, infantile

newborn

F

NPC1

p.[T1205NfsX53] + [T1205NfsX53]

4

NPC, juvenile

10 yr.

F

NPC1

p.[L1191F] + [L1191F]

5

NPC, infantile

4 yr.

M

NPC1

p.[F284LfsX26] + [F284LfsX26]

  1. F – female, M – male, n.a. = data not available.
  2. * NPC1 mutations are described according to the HGVS recommended nomenclature (http://varnomen.hgvs.org/). NPC1 amino acid numbers are derived from GenBank accession no. NP_000262).
  3. Note that the GBA mutations at the protein level are described following the traditional nomenclature within the Gaucher field, which considers amino acid 1 the first amino acid after the signal peptide (GenBank accession no. M16328.1). According to current HGVS recommended nomenclature, ascribing the A of the first ATG translational initiation codon as nucleotide + 1, 39 amino acids should be added.
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