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NA09787 DNA from LCL

Description:

TAY-SACHS DISEASE; TSD
HEXOSAMINIDASE A; HEXA
ASPARTOACYLASE; ASPA

Affected:

Yes

Sex:

Female

Age:

3 YR (At Sampling)

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Lipid Metabolism
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 Clinically affected; modified & slower onset than typical Tay-Sachs; absent hexosaminidase A activity as judged by MUGS assay; 46,XX in peripheral blood lymphocytes; donor subject is heterozygous for a G>A splice site mutation in intron 9 of the HEXA gene: c.1073+1 G>A (IVS9+1 G>A); parents (not in repository) carry 2 different mutations; negative for familial dysautonomia (FD) and Canavan diseases.

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
 
beta-N-acetylhexosaminidase (hexosaminidase A) According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.52; 0% activity.
 
Gene HEXA
Chromosomal Location 15q23-q24
Allelic Variant 1 606869.0033; TAY-SACHS DISEASE
Identified Mutation c.1073+1 G>A (IVS9+1 G>A); Akli et al. (1991) described a G-to-A transition of the obligatory GT sequence of the intron 9 donor splice site of the HEXA gene in a case of classic Tay-Sachs disease (272800). In a case of infantile Tay-Sachs disease in a Louisiana Cajun family, McDowell et al. (1992) found compound heterozygosity for the exon 11 insertion (606869.0001) and for a G-to-A transition at position +1 of intron 9 changing the invariant GT of the donor splice site to AT. Akerman et al. (1992) found a relatively high frequency of the IVS9 donor splice site mutation in non-Jewish Caucasians. The mutation was not identified among 12 black American TSD alleles or in any of 18 Ashkenazi Jewish, enzyme-defined carriers. This allele and the HEXA pseudodeficiency allele (606869.0035) described by Triggs-Raine et al. (1992) account for almost 50% (29/64) of TSD or carrier alleles ascertained by enzyme screening in non-Jewish Caucasians. Of 24 unrelated mutant chromosomes from 20 non-Jewish subjects (15 TSD carriers, 4 TSD patients, and 1 TSD fetus) in the British Isles, 5 had mutations common in the Ashkenazi Jewish community (606869.0001 and 606869.0002) and 10 had the intron 9 splice site mutation (Landels et al., 1992). This was an unexpected finding considering the diverse origin of the population of the British Isles. By cDNA-PCR amplification, Akli et al. (1993) found a 17-bp insertion due to the same mutation in 2 French patients with the infantile form of Tay-Sachs disease. One was a homozygote and one a compound heterozygote with a 4-bp insertion in exon 11 in the second allele. The G-to-A transition in the donor site resulted in activation of a cryptic donor site in the intron. Akli et al. (1993) found the mutation in 9 of 82 Tay-Sachs chromosomes. In the British Isles, the IVS9DS mutation was found more frequently in subjects of Irish, Scottish, and Welsh origin than in those of English origin (63% and 31%, respectively). In a blind study, Landels et al. (1993) tested 26 American TSD carriers and 28 noncarriers who had British ancestry for the IVS9DS mutation. Six of the carriers and none of the controls were positive for the mutation. All 6 had Irish ancestry compared with 9 of the 20 other IVS9DS-negative TSD carriers. These results confirmed the previously found high frequency of this specific mutation in non-Jewish TSD families of British Isles, particularly Irish, origin, and reinforced the need to screen such families for this mutation.

Phenotypic Data

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Remarks Clinically affected; modified & slower onset than typical Tay-Sachs; absent hexosaminidase A activity as judged by MUGS assay; 46,XX in peripheral blood lymphocytes; donor subject is heterozygous for a G>A splice site mutation in intron 9 of the HEXA gene: c.1073+1 G>A (IVS9+1 G>A); parents (not in repository) carry 2 different mutations; negative for familial dysautonomia (FD) and Canavan diseases.

Publications

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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: 16228
Gene Cards ASPA
HEXA
Gene Ontology GO:0004046 aminoacylase activity
GO:0004563 beta-N-acetylhexosaminidase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
GO:0006533 aspartate catabolism
GO:0006687 glycosphingolipid metabolism
GO:0008152 metabolism
GO:0016788 hydrolase activity, acting on ester bonds
GO:0016798 hydrolase activity, acting on glycosyl bonds
GO:0019807 aspartoacylase activity
NCBI Gene Gene ID:3073
Gene ID:443
NCBI GTR 272800 TAY-SACHS DISEASE; TSD
606869 HEXOSAMINIDASE A; HEXA
608034 ASPARTOACYLASE; ASPA
OMIM 272800 TAY-SACHS DISEASE; TSD
606869 HEXOSAMINIDASE A; HEXA
608034 ASPARTOACYLASE; ASPA
Omim Description B VARIANT GM2 GANGLIOSIDOSIS
  GM2-GANGLIOSIDOSIS, ADULT CHRONIC TYPE, INCLUDED
  GM2-GANGLIOSIDOSIS, TYPE I
  HEXA DEFICIENCYHEXOSAMINIDASE A, INCLUDED; HEXA, INCLUDED
  HEXOSAMINIDASE A DEFICIENCY
  HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE, INCLUDED
  TAY-SACHS DISEASE, JUVENILE, INCLUDED
  TAY-SACHS DISEASE, PSEUDO-AB VARIANT, INCLUDED
  TAY-SACHS DISEASE, VARIANT B1, INCLUDED
  TAY-SACHS DISEASE; TSD
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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