OMIA:001461-9823 : Gangliosidosis, GM2, type I (B variant) in Sus scrofa (pig)
Categories: Lysosomal storage disease
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
Cross-species summary: Tay-Sachs disease
Molecular basis: Bertani et al. (2021): "Genetic analysis identified, at a homozygous level, the presence of a missense nucleotide variant c.1495C > T (p Arg499Cys) in the hexosaminidase subunit alpha gene (HEXA), located within the GH20 hexosaminidase superfamily domain of the encoded protein. This specific HEXA variant is known to be pathogenic and associated with Tay-Sachs disease in humans ... ."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Bertani et al. (2021): "The piglets ... presented progressive neurological signs, starting at 6 months of age. Animals were euthanized at approximately one year of age due to their poor conditions."
Pathology: Bertani et al. (2021): "Gross examination showed a reduction of cerebral and cerebellar consistency. Central (CNS) and peripheral (PNS) nervous system neurons were enlarged and foamy, with severe and diffuse cytoplasmic vacuolization. Transmission electron microscopy (TEM) of CNS neurons demonstrated numerous lysosomes, filled by parallel or concentric layers of membranous electron-dense material, defined as membranous cytoplasmic bodies (MCB). Biochemical composition of gangliosides analysis from CNS revealed accumulation of GM2 ganglioside; furthermore, Hex A enzyme activity was less than 1% compared to control animals."
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HEXA||hexosaminidase A (alpha polypeptide)||Sus scrofa||7||NC_010449.5 (60878531..60911537)||HEXA||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1318||Wild boar||Gangliosidosis, GM2, type I||HEXA||missense||Naturally occurring variant||Sscrofa11.1||7||g.60910365C>T||c.1495C>T||p.(R499C)||cDNA positions based on NM_001123221.1||2021||34119419|
Cite this entry
|2021||Bertani, V., Prioni, S., Di Lecce, R., Gazza, F., Ragionieri, L., Merialdi, G., Bonilauri, P., Jagannathan, V., Grassi, S., Cabitta, L., Paoli, A., Morrone, A., Sonnino, S., Drögemüller, C., Cantoni, A.M. :|
|A pathogenic HEXA missense variant in wild boars with Tay-Sachs disease. Mol Genet Metab , 2021. Pubmed reference: 34119419. DOI: 10.1016/j.ymgme.2021.05.001.|
- Created by Imke Tammen2 on 16 Jun 2021
- Changed by Imke Tammen2 on 16 Jun 2021