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OMIA 001427-9685 : Gangliosidosis, GM2, GM2A deficiency in Felis catus

In other species: dog

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 272750 (trait) , 613109 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2005

Cross-species summary: Also known as GM2 gangliosidosis type AB

History: This is an example of a disorder that is first reported in the same paper that describes its molecular basis.

Molecular basis: By sequencing a very likely comparative candidate gene (namely GM2A, based on the homologous disorder in humans), Martin et al. (2005) were able to report that "a deletion of 4 base pairs was identified as the causative mutation, resulting in alteration of 21 amino acids at the C terminus of the GM2 activator protein". According to variant nomenclature as of the year 2013, this corresponds to c.516_519delGGTC or p.V173Sfs*17.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
GM2A GM2 ganglioside activator Felis catus A1 NC_058368.1 (195495804..195481259) GM2A 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.

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
496 Gangliosidosis, GM2, GM2A deficiency GM2A deletion, small (<=20) Naturally occurring variant Felis_catus_9.0 A1 g.198114664_198114667del c.516_519del p.(V173Sfs*17) XM_003981379.5; XP_003981428.2; published as c.516_519delGGTC 2005 16200419 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
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Reference


2005 Martin, DR., Cox, NR., Morrison, NE., Kennamer, DM., Peck, SL., Dodson, AN., Gentry, AS., Griffin, B., Rolsma, MD., Baker, HJ. :
Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis. Acta Neuropathol (Berl) 110:443-50, 2005. Pubmed reference: 16200419. DOI: 10.1007/s00401-005-1040-6.

Edit History


  • Created by Frank Nicholas on 26 Nov 2007
  • Changed by Frank Nicholas on 07 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 26 Nov 2012
  • Changed by Tosso Leeb on 29 May 2013