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NA04268 DNA from Fibroblast

Description:

CANAVAN DISEASE
ASPARTOACYLASE; ASPA

Affected:

Yes

Sex:

Male

Age:

2 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
GeT-RM Samples
Class Disorders of the Nervous System
Quantity 10 µg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Ethnicity JEWISH
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Jewish; spasticity; retardation and megalencephaly; donor subject is homozygous for an A>C transversion at nucleotide 854 of the ASPA gene [854A>C] resulting in a substitution of alanine for glutamic acid at codon 285 [Glu285Ala (E285A)].

Characterizations

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PDL at Freeze 6.87
Passage Frozen 5
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
N-ACETYLASPARTOACYLASE Dr Reuben Matalon (personal communication) has reported that this fibroblast culture shows N-acetylaspartoacylase activity which falls in the deficient range.
 
MUTATION VERIFICATION The gene mutation(s) in this sample have been verified by 6 laboratories.
 
Gene ASPA
Chromosomal Location 17pter-p13
Allelic Variant 1 608034.0001; CANAVAN DISEASE
Identified Mutation GLU285ALA; In 29 of 34 alleles from a sample of 17 unrelated pedigrees of Ashkenazi Jewish descent, Kaul et al. [Nat Genet 5: 118 (1993)] found a missense glu285-to-ala mutation. Of the 17 probands, 12 were found to be homozygous for the mutation and 5 were compound heterozygotes, the mutation on the second Canavan allele remaining to be determined. Elpeleg et al. [Am J Hum Genet 55: 287 (1994)] found that the A-to-C transition at nucleotide 854 of the cDNA was present in homozygous state in all 18 patients with Canavan disease observed in Israel. All were Israeli Ashkenazi Jews. Among 879 healthy Israeli Ashkenazi Jews, 15 heterozygotes were found, representing a carrier rate of 1 in 59.
 
Gene ASPA
Chromosomal Location 17pter-p13
Allelic Variant 2 608034.0001; CANAVAN DISEASE
Identified Mutation GLU285ALA; In 29 of 34 alleles from a sample of 17 unrelated pedigrees of Ashkenazi Jewish descent, Kaul et al. [Nat Genet 5: 118 (1993)] found a missense glu285-to-ala mutation. Of the 17 probands, 12 were found to be homozygous for the mutation and 5 were compound heterozygotes, the mutation on the second Canavan allele remaining to be determined. Elpeleg et al. [Am J Hum Genet 55: 287 (1994)] found that the A-to-C transition at nucleotide 854 of the cDNA was present in homozygous state in all 18 patients with Canavan disease observed in Israel. All were Israeli Ashkenazi Jews. Among 879 healthy Israeli Ashkenazi Jews, 15 heterozygotes were found, representing a carrier rate of 1 in 59.

Phenotypic Data

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Remarks Jewish; spasticity; retardation and megalencephaly; donor subject is homozygous for an A>C transversion at nucleotide 854 of the ASPA gene [854A>C] resulting in a substitution of alanine for glutamic acid at codon 285 [Glu285Ala (E285A)].

Publications

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Feng L, Chao J, Zhang M, Pacquing E, Hu W, Shi Y, Developing a human iPSC-derived three-dimensional myelin spheroid platform for modeling myelin diseases iScience26:108037 2023
PubMed ID: 37867939
 
Feng L, Chao J, Tian E, Li L, Ye P, Zhang M, Chen X, Cui Q, Sun G, Zhou T, Felix G, Qin Y, Li W, Meza ED, Klein J, Ghoda L, Hu W, Luo Y, Dang W, Hsu D, Gold J, Goldman SA, Matalon R, Shi Y, Cell-Based Therapy for Canavan Disease Using Human iPSC-Derived NPCs and OPCs Advanced science (Weinheim, Baden-Wurttemberg, Germany)7:2002155 2020
PubMed ID: 33304759
 
Dembic M, Andersen HS, Bastin J, Doktor TK, Corydon TJ, Sass JO, Costa AL, Djouadi F, Andresen BS, Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease Molecular genetics and metabolism7:2002155 2018
PubMed ID: 30446350
 
Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent The Journal of molecular diagnostics : JMD11:530-6 2009
PubMed ID: 19815695

External Links

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dbSNP dbSNP ID: 10721
Gene Cards ASPA
Gene Ontology GO:0004046 aminoacylase activity
GO:0006533 aspartate catabolism
GO:0008152 metabolism
GO:0016788 hydrolase activity, acting on ester bonds
GO:0019807 aspartoacylase activity
NCBI Gene Gene ID:443
NCBI GTR 271900 CANAVAN DISEASE
608034 ASPARTOACYLASE; ASPA
OMIM 271900 CANAVAN DISEASE
608034 ASPARTOACYLASE; ASPA
Omim Description ACY2 DEFICIENCY
  AMINOACYLASE 2 DEFICIENCY
  ASP DEFICIENCY
  ASPA DEFICIENCY
  ASPARTOACYLASE DEFICIENCY
  CANAVAN DISEASE
  CANAVAN-VAN BOGAERT-BERTRAND DISEASE
  SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM
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International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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