OMIA 001461-9217 : Gangliosidosis, GM2, type I (B variant) in Phoenicopterus ruber

In other species: muntjak , sheep , rabbit , dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 272800

Mendelian trait/disorder: unknown

Considered a defect: yes

Year key variant first reported: 2008

Cross-species summary: Tay-Sachs disease

Molecular basis: In a clear sign of the times, in a single paper Zeng et al. (2008) not only described the occurrence of a lysosomal storage disease in just two American famingoes, but also, based on the clinical signs and pathology of these two birds, were able to show the cause as a P469L missense mutation in exon 12 of the HEXA gene. Although the disorder has been reported in other species of non-laboratory animals, this is the first reported case of naturally-occurring HEXA deficiency in animals that has been characterised at the DNA level.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
HEXA Phoenicopterus ruber - no genomic information (-..-) HEXA Ensembl

Reference


2008 Zeng, BJ., Torres, PA., Viner, TC., Wang, ZH., Raghavan, SS., Alroy, J., Pastores, GM., Kolodny, EH. :
Spontaneous appearance of Tay-Sachs disease in an animal model. Mol Genet Metab 95:59-65, 2008. Pubmed reference: 18693054. DOI: 10.1016/j.ymgme.2008.06.010.

Edit History


  • Created by Frank Nicholas on 20 Sep 2008
  • Changed by Frank Nicholas on 12 Oct 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 22 Mar 2012