Description:
NIEMANN-PICK DISEASE, TYPE C1; NPC1
NPC1 GENE; NPC1
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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 Member
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2
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Family History
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N
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Relation to Proband
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identical twin sister
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Confirmation
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Clinical summary/Case history
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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 |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 1 |
; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
1920delG |
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| Gene |
NPC1 |
| Chromosomal Location |
18q11-q12 |
| Allelic Variant 2 |
193 bp insertion; NIEMANN-PICK DISEASE, TYPE C1 |
| Identified Mutation |
IVS9-1009G>A |
| Remarks |
Clinically affected; delivered via C-section at 35 weeks gestation; hospitalized 10 days for feeding issues; splenomegaly first noted at 2 years of age; global developmental delay more pronounced in fine and gross motor skills with early signs of ataxia; hepatomegaly noted at age 3 years and 9 months; persistent mild elevated AST and LDH; elevated DHEA; mild leukopenia; regression of speech; see GM22871 Fibroblast; affected monozygotic twin sister (GM22227); donor subject has a 1 bp deletion in exon 12 of the NPC1 gene (1920delG) inherited from her mother; her paternal mutation is a missense mutation (IVS9-1009G>A) |
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