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

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 272750

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_018723.3 (198127602..198113084) GM2A Homologene, Ensembl, NCBI gene

Variants

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Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Gangliosidosis, GM2, GM2A deficiency GM2A deletion, small (<=20) c.516_519delGGTC p.V173Sfs*17 2005 16200419

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