|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The rapid identification of mutations causing Tay-Sachs disease requires the capacity to readily screen the regions of the HEXA gene most likely to be affected by mutation.
|
1833974 |
1991 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Tay-Sachs disease in Moroccan Jews: deletion of a phenylalanine in the alpha-subunit of beta-hexosaminidase.
|
1825014 |
1991 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we have characterized 34 enzymatically confirmed TSD families to investigate the presence of novel as well as known variants in HEXA gene.
|
31388111 |
2019 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We performed a HEXA gene sequencing assay, a HEXA DNA common mutation assay, and a HEXA enzyme assay on 34 self-reported Tay-Sachs disease (TSD) carriers, six late-onset patients with TSD, and one pseudodeficiency allele carrier.
|
19858779 |
2010 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Different attenuated phenotypes of GM2 gangliosidosis variant B in Japanese patients with HEXA mutations at codon 499, and five novel mutations responsible for infantile acute form.
|
14566483 |
2003 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.
|
7551830 |
1995 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nearly 100% of infantile Tay-Sachs disease is produced by two mutations occurring in the alpha chain of the lysosomal enzyme beta-N-acetylhexosaminidase (HEXA) in the Ashkenazi Jewish population.
|
10806593 |
2000 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe three HEXA mutations associated with infantile Tay-Sachs disease (TSD) in three unrelated nonconsanguineous Chinese families.
|
1301190 |
1992 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The genes responsible for these disorders are HEXA (Tay-Sachs disease and variants), HEXB (Sandhoff disease and variants), and GM2A (AB variant of GM2 gangliosidosis).
|
11339652 |
2001 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.
|
1302612 |
1992 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the HEXA gene specific to Tay-Sachs disease carriers of Jewish Iraqi origin.
|
10852376 |
2000 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A child with late-infantile TSD was found to have two HEXA mutations, 986 + 3A-->G (A-->G at the +3 position of intron 8) and 533G-->A, associated with the variant B1 form of TSD.
|
7551830 |
1995 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have now identified two additional mutations within exon 5 of the HEXA gene that account for the remaining TSD alleles in the patient and carriers.
|
1322637 |
1992 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in HEXA that impair β-hexosaminidase A (Hex A) enzyme activity cause Tay-Sachs Disease (TSD), a severe autosomal-recessive neurodegenerative disorder.
|
31293106 |
2019 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the last decade, the cloning of the HEXA gene and the identification of more than 80 associated TSD-causing mutations has permitted molecular diagnosis in many instances.
|
10464605 |
1998 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele.
|
1384323 |
1992 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.
|
8490625 |
1993 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In particular, the mutations in the human HEXA gene that cause the infantile Tay-Sachs disease have been studied using MALDI-MS to demonstrate the feasibility of this technique for use in clinical and diagnostic analysis.
|
9218358 |
1997 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Structural consequences of amino acid substitutions causing Tay-Sachs disease.
|
18490185 |
2008 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We describe three HEXA mutations associated with infantile Tay-Sachs disease (TSD) in three unrelated nonconsanguineous Chinese families.
|
1301190 |
1992 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Tay-Sachs disease (TSD) is a recessively inherited neurodegenerative disorder due to mutations in the HEXA gene resulting in a beta-hexosaminidase A (Hex A) deficiency.
|
20100466 |
2010 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Biochemical consequences of mutations causing the GM2 gangliosidoses.
|
10571007 |
1999 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.
|
8328462 |
1993 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We aimed to determine mutations leading to TSD in India by complete sequencing of the HEXA gene.
|
22723944 |
2012 |
|
Tay-Sachs Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Eight novel mutations in the HEXA gene.
|
12180151 |
2003 |