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NA16824 DNA from LCL

Description:

ALEXANDER DISEASE
GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP

Affected:

Yes

Sex:

Male

Age:

23 MO (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of the Nervous System
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
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)].

Characterizations

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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
 
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.

Phenotypic Data

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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)].

Publications

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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

External Links

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dbSNP dbSNP ID: 23034
Gene Cards GFAP
Gene Ontology GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005882 intermediate filament
NCBI Gene Gene ID:2670
NCBI GTR 137780 GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP
203450 ALEXANDER DISEASE; ALXDRD
OMIM 137780 GLIAL FIBRILLARY ACIDIC PROTEIN; GFAP
203450 ALEXANDER DISEASE; ALXDRD
Omim Description ALEXANDER DISEASE
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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  • GM16824 - B-Lymphocyte
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