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NA00502 DNA from Fibroblast

Description:

TAY-SACHS DISEASE; TSD
HEXOSAMINIDASE A; HEXA

Affected:

Yes

Sex:

Male

Age:

11 MO (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 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; deficient hexosaminidase A; electrophoresis shows absence of A band; donor subject is a compound heterozygote: one allele has a 4-bp insertion at nucleotide 1278 in exon 11 of the HEXA gene [1278insTATC] that introduces a premature termination signal in the exon resulting in deficiency of mRNA; the second allele has a G>C splice site mutation in intron 12 (IVS12+1G>C)

Characterizations

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PDL at Freeze 4.19
Passage Frozen 7
 
MUTATION VERIFICATION Ohno & Suzuki (Biochem Biophys Res Comm 153:463 1988) observed 1 normal alpha-chain allele and 1 alpha-chain allele with a splice junction mutation consisting of a cytidine residue substituting for a guanosine as the first nucleotide at the 5 prime boundary of intron 12. Ohno & Suzuki (J Biol Chem 263:18563-18567 1988) described in detail the structures of the abnormal cDNAs isolated from fibroblasts of this patient which indicated highly complex consequences of the splicing defect. Their findings suggest that the splicing defect results in either retention of intron 12 or skipping of exon 12 in approximately equal proportions and that remote upstream exons are also frequently excised out.
 
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
 
Gene HEXA
Chromosomal Location 15q23-q24
Allelic Variant 1 606869.0001; TAY-SACHS DISEASE
Identified Mutation c.1274_1277dupTATC; Myerowitz and Costigan [J Biol Chem 263: 18587 (1988)] demonstrated that the most frequent DNA lesion in Tay-Sachs disease of Ashkenazi Jews is a 4-bp insertion in exon 11. This mutation introduces a premature termination signal in exon 11, resulting in a deficiency of mRNA. This is the most frequent defect underlying Tay-Sachs disease in the Ashkenazi Jewish population. This mutation is alternatively designated 1277TATC; see 272800.0054.
 
Gene HEXA
Chromosomal Location 15q23-q24
Allelic Variant 2 606869.0002; TAY-SACHS DISEASE
Identified Mutation IVS12DS, G>C, +1; Arpaia et al. [Nature 333: 85 (1988)] identified a single-base mutation in a cloned fragment of the HEXA gene from an Ashkenazi Jewish patient with Tay-Sachs disease. The change, a G-to-C substitution in the first nucleotide of intron 12, was expected to result in defective splicing of the mRNA. A test for the mutant allele based on amplification of DNA by the PCR and cleavage of a DdeI restriction site generated by the mutation showed that this case. This mutation, the second most frequent among Ashkenazi Jews, accounts for approximately 13% of cases in this ethnic group.

Phenotypic Data

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Remarks Jewish; deficient hexosaminidase A; electrophoresis shows absence of A band; donor subject is a compound heterozygote: one allele has a 4-bp insertion at nucleotide 1278 in exon 11 of the HEXA gene [1278insTATC] that introduces a premature termination signal in the exon resulting in deficiency of mRNA; the second allele has a G>C splice site mutation in intron 12 (IVS12+1G>C)

Publications

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Stefanov BA, Ajuh E, Allen S, Nowacki M, Eukaryotic release factor 1 from Euplotes promotes frameshifting at premature stop codons in human cells iScience27:109413 2023
PubMed ID: 38510117
 
Colussi DJ, Jacobson MA, Patient-Derived Phenotypic High-Throughput Assay to Identify Small Molecules Restoring Lysosomal Function in Tay-Sachs Disease SLAS discovery : advancing life sciences R & D24:295-303 2019
PubMed ID: 30616450
 
Triggs-Raine BL, Feigenbaum AS, Natowicz M, Skomorowski MA, Schuster SM, Clarke JT, Mahuran DJ, Kolodny EH, Gravel RA, Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests. N Engl J Med323:6-12 1990
PubMed ID: 2355960
 
Miranda AF, Duigou GJ, Hernandez E, Fisher PB, Characterization of mutant human fibroblast cultures transformed with simian virus 40. J Cell Sci89 ( Pt 4):481-93 1988
PubMed ID: 2848852
 
Ohno, Molecular genetics of B-N-acetyl-hexosaminidase alpha subunit mutations (from Lipid Storage Disorders, Plenum Publishing Corp) "Lipid Storage Disorders"1988, pp215:481-93 1988
PubMed ID: 2848852
 
Ohno K, Suzuki K, A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease. Biochem Biophys Res Commun153:463-9 1988
PubMed ID: 2837213
 
Ohno K, Suzuki K, Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound- heterozygous Ashkenazi Jewish patient with Tay-Sachs disease. J Biol Chem263:18563-7 1988
PubMed ID: 2973464
 
Bladon MT, The expression of hex A and hex B isozymes of hexosaminidase in parental and experimental human fibroblast cells and their components. Biochem Genet19:971-86 1981
PubMed ID: 7332532
 
Pullarkat RK, Reha H, Beratis NG, Ganglioside accumulation in cultured skin fibroblasts from gangliosidosis patients. Biochem Biophys Res Commun92:149-54 1980
PubMed ID: 7356448

External Links

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dbSNP dbSNP ID: 15750
Gene Cards HEXA
Gene Ontology GO:0004563 beta-N-acetylhexosaminidase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
GO:0006687 glycosphingolipid metabolism
GO:0016798 hydrolase activity, acting on glycosyl bonds
NCBI Gene Gene ID:3073
NCBI GTR 272800 TAY-SACHS DISEASE; TSD
606869 HEXOSAMINIDASE A; HEXA
OMIM 272800 TAY-SACHS DISEASE; TSD
606869 HEXOSAMINIDASE A; HEXA
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
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$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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