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)s (MIM numbers): 272800 , 606869

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: 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

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 Year Published PubMed ID(s) Acknowledgements
Tay-Sachs disease HEXA missense c.1,406C>T p.Pro469Leu 2008 18693054

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
  • Changed by Frank Nicholas on 15 May 2020