rs4777502
This variant is located in the HEXA gene.
▶ClinVar annotation
not specified; Tay-Sachs disease; not provided
View on ClinVar →▶Research that mentions this SNP (1)
▶Next‐generation DNA sequencing of HEXA: a step in the right direction for carrier screeningMethodsN=74Jodi D. Hoffman et al.(2013)· Molecular Genetics & Genomic Medicine
This study compared next-generation DNA sequencing (NGS) plus a 7.6 kb deletion assay to traditional enzyme analysis for Tay-Sachs disease (TSD) carrier screening in 74 individuals. NGS detected pathogenic HEXA mutations, pseudoalleles, or VUS in 100% of enzyme-positive or obligate carrier samples, and identified the B1 allele (p.Arg178His) in two enzyme-negative obligate carriers, demonstrating that NGS is superior to traditional enzyme and genotyping methodologies for TSD carrier screening.
About HEXA
This gene encodes a member of the glycosyl hydrolase 20 family of proteins. The encoded preproprotein is proteolytically processed to generate the alpha subunit of the lysosomal enzyme beta-hexosaminidase. This enzyme, together with the cofactor GM2 activator protein, catalyzes the degradation of the ganglioside GM2, and other molecules containing terminal N-acetyl hexosamines. Mutations in this gene lead to an accumulation of GM2 ganglioside in neurons, the underlying cause of neurodegenerative disorders termed the GM2 gangliosidoses, including Tay-Sachs disease (GM2-gangliosidosis type I). Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
View all HEXA variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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