OMIA 001461-9823 : Gangliosidosis, GM2, type I (B variant) in Sus scrofa

In other species: American flamingo , dog , muntjak , sheep , rabbit

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 272800 (trait) , 606869 (gene)

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 ... ."

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."

Breed: Wild boar.

Associated gene:

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

Variants

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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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Wild boar Gangliosidosis, GM2, type I HEXA missense Sscrofa11.1 7 g.60910365C>T c.1495C>T p.(R499C) cDNA positions based on NM_001123221.1 2021 34119419

Reference


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.

Edit History


  • Created by Imke Tammen2 on 16 Jun 2021
  • Changed by Imke Tammen2 on 16 Jun 2021