Description:
ALEXANDER DISEASE
GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
| 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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Relation to Proband
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proband
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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 Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
GFAP |
| Chromosomal Location |
17q21 |
| Allelic Variant 1 |
137780.0001; ALEXANDER DISEASE |
| Identified Mutation |
ARG239CYS; Brenner et al. [Nature Genet. 27: 117-120 (2001)] found that 5 unrelated patients with Alexander disease (203450) were heterozygous for mutations in codon 239 of the GFAP gene. In 4 of these, a C-to-T transition at nucleotide 729 led to an arg239-to-cys mutation (R239C). Age at death in these 4 patients varied from 4 years to 11 years. |
| Remarks |
Line ALX-1; floppy at birth; macrocephalic; at one month abnormal eye movements (sun-downing); CAT scan at two months showed borderline hydrocephalus and at four months decreased density white matter; by 11 months MRI showed frontal leukodystrophy; onset of seizures at 13 months; nasogastric tube at 16 months; respiratory, then cardiac arrest and death at 30 months; autopsy confirmed diagnosis; donor subject is heterozygous for a mutation in codon 239 of the GFAP gene; a C-to-T transition at nucleotide 729 (729C>T) results in an arg239-to-cys mutation [ARG239CYS (R239C)]. |
| Messing A, Goldman JE, Johnson AB, Brenner M, Alexander disease: new insights from genetics. J Neuropathol Exp Neurol60(6):563-73 2001 |
| PubMed ID: 11398833 |
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