OMIA 001461-9940 : Gangliosidosis, GM2, type I (B variant) in Ovis aries

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

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: 2010

Cross-species summary: Tay-Sachs disease

Molecular basis: Torres et al. (2010) reported the causative mutation in Jacob sheep from North America as being a "mutation . . . in the hexa cDNA of the affected sheep caused by a single nucleotide change [c.1330G>C; G444R] at the end of exon 11 resulting in skipping of exon 11". Wessels et al. (2013) reported exactly the same mutation in British Jacob sheep.

Breed: Jacob.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
HEXA hexosaminidase A (alpha polypeptide) Ovis aries 7 NC_056060.1 (19135657..19104180) HEXA Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
Jacob Gangliosidosis, GM2, type I (B variant) HEXA splicing Oar_rambouillet_v1.0 7 g.20584348C>G c.1330G>C The variant [c.1330G>C; G444R] at the end of exon 11 effects splicing and results in skipping of exon 11. 2010 20817517 The genomic location on Oar_rambouillet_v1.0 was determined by Katie Eager, EMAI, NSW Department of Primary Industries.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2021 Neov, B., Krastanov, J., Angelova, T., Palova, N., Laleva, S., Hristov, P. :
Sequence analysis of the Hex A gene in Jacob sheep from Bulgaria. Vet World 14:56-60, 2021. Pubmed reference: 33642786. DOI: 10.14202/vetworld.2021.56-60.
Story, B., Taghian, T., Gallagher, J., Koehler, J., Taylor, A., Randle, A., Nielsen, K., Gross, A., Maguire, A., Carl, S., Johnson, S., Fernau, D., Diffie, E., Cuddon, P., Corado, C., Chandra, S., Sena-Esteves, M., Kolodny, E., Jiang, X., Martin, D., Gray-Edwards, H. :
Natural history of Tay-Sachs disease in sheep. Mol Genet Metab :, 2021. Pubmed reference: 34456134. DOI: 10.1016/j.ymgme.2021.08.009.
2020 Cavender, C., Mangini, L., Van Vleet, J.L., Corado, C., McCullagh, E., Gray-Edwards, H.L., Martin, D.R., Crawford, B.E., Lawrence, R. :
Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses. PLoS One 15:e0243006, 2020. Pubmed reference: 33259552. DOI: 10.1371/journal.pone.0243006.
2016 Lawson, C.A., Martin, D.R. :
Animal models of GM2 gangliosidosis: utility and limitations. Appl Clin Genet 9:111-20, 2016. Pubmed reference: 27499644. DOI: 10.2147/TACG.S85354.
2014 Lewis, C., Wessels, M., Carty, H., Baird, P., Cox, T., Cachón, B., Wang, S., Holmes, P., Mackintosh, A., Chianini, F. :
Testing sheep for GM2 gangliosidosis. Vet Rec 175:260, 2014. Pubmed reference: 25217607. DOI: 10.1136/vr.g5560.
Wessels, M., Carty, H., Baird, P., Beggs, N., Cox, T., Cachón, B., Wang, S., Davies, I., Holmes, P., Mackintosh, A., Chianini, F. :
GM2 gangliosidosis in British Jacob sheep. Vet Rec 174:20-1, 2014. Pubmed reference: 24391178. DOI: 10.1136/vr.f7635.
2013 Wessels, M.E., Holmes, J.P., Jeffrey, M., Jackson, M., Mackintosh, A., Kolodny, E.H., Zeng, B.J., Wang, C.B., Scholes, S.F. :
GM2 Gangliosidosis in British Jacob Sheep. J Comp Pathol :, 2013. Pubmed reference: 24309906. DOI: 10.1016/j.jcpa.2013.10.003.
2011 Porter, B.F., Lewis, B.C., Edwards, J.F., Alroy, J., Zeng, B.J., Torres, P.A., Bretzlaff, K.N., Kolodny, E.H. :
Pathology of GM2 gangliosidosis in Jacob sheep. Vet Pathol 48:807-13, 2011. Pubmed reference: 21123862. DOI: 10.1177/0300985810388522.
2010 Torres, P.A., Zeng, B.J., Porter, B.F., Alroy, J., Horak, F., Horak, J., Kolodny, E.H. :
Tay-Sachs disease in Jacob sheep. Mol Genet Metab 101:357-63, 2010. Pubmed reference: 20817517. DOI: 10.1016/j.ymgme.2010.08.006.

Edit History


  • Created by Frank Nicholas on 08 Jul 2012
  • Changed by Frank Nicholas on 19 Jun 2013
  • Changed by Frank Nicholas on 08 Dec 2013
  • Changed by Imke Tammen2 on 12 Apr 2021
  • Changed by Imke Tammen2 on 17 Sep 2021