Description:
NIEMANN-PICK DISEASE, TYPE C1; NPC1
NPC1 GENE; NPC1
FRATAXIN; FXN
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family History
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N
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Relation to Proband
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proband
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
FXN |
| Chromosomal Location |
9q13-q21.1 |
| Allelic Variant 1 |
606829.0001; FRIEDREICH ATAXIA |
| Identified Mutation |
(GAA)n EXPANSION; GAA triplet repeat expansions between 200 and 900 copies in the first intron of the frataxin gene occurred in 71 out of 74 FRDA patients studied by Campuzano et al. [Science 271: 1423-1427 (1996)]. In unaffected individuals the triplet expansion numbered between 7 and 20 units. |
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| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 1 |
R404Q; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
ARG404GLN |
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| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 2 |
607623.0012; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
PRO1007ALA; In 3 families with variant Niemann-Pick disease type C1 (257220), Millat et al. (Am. J. Hum. Genet. 68: 1373-1385, 2001) found compound heterozygosity for the 2 most common alleles of the NPC1 gene, I1061T (607623.0010) and P1007A. Compound heterozygosity of these 2 alleles resulted in the juvenile onset of symptoms and a significantly slower progression of the disease than in homozygous I1061T patients. |
| Remarks |
Clinically affected; weight loss; slow swallowing; frequent partial seizures; disturbed sleep patterns; suspected hypnopompic hallucinations; hypersomnolent; limb weakness; difficulty with coordination; often sad, restless, irritable or angry; progressive ataxia and dystonia; ataxic dysarthria; speech has become less intelligible; vertical and early horizontal supranuclear gaze palsy; donor subject is a compound heterozygote: one allele has a G>A transition at nucleotide 1211 in exon 8 of the NPC1 gene (c.1211G>A) resulting in the substitution of glutamine for arginine at codon 404 [Arg404Gln (R404Q)] and the second allele has a C>G transversion at nucleotide 3019 in exon 20 (c.3019C>G) resulting in the substitution of alanine for proline at codon 1007 [Pro1007Ala (P1007A)]; donor subject is also heterozygous for an expanded GAA tracked in the FRDA gene (FXN): the expanded allele has 196 GAA repeats |
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