OMIA 001371-9615 : L-2-hydroxyglutaricacidemia in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 236792

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2007

Species-specific name: L-2-hydroxyglutaric aciduria

Species-specific symbol: L-2-HGA

Species-specific description: The first cases of this inborn error of metabolism in animals were reported by Abramson et al. (2001, 2003) [FN: 7 Oct 2003]

Molecular basis: Using a candidate gene strategy (based on the homologous disorder in humans), Penderis et al. (2007) sequenced "all 10 canine L2HGDH exons (with flanking intron regions) from the [Staffordshire bull terrier] affected dogs and two carrier dogs" and identified a causal mutation as "two single‐nucleotide substitutions separated by a single invariant T nucleotide in exon 10 (c[1297T→C; 1299c→t]; p[Leu433Pro; His434Tyr])". Sanchez-Masian et al. (2012) identified a different mutation in the same gene in a family of Yorkshire Terriers: a base substitution "at the translation initiation codon of the homolog canine L2HGDH gene was detected (c.1A>G; p.Met1?)". Farias et al. (2012) reported the same mutation in the same breed.

Breeds: Staffordshire Bull Terrier, West Highland Terrier, Yorkshire Terrier.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
L2HGDH L-2-hydroxyglutarate dehydrogenase Canis lupus familiaris 8 NC_006590.3 (26760411..26721501) L2HGDH Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
Yorkshire Terrier L-2-hydroxyglutaricacidemia L2HGDH regulatory c.1A>G p.Met1? 2012 22843824
Staffordshire Bull Terrier L-2-hydroxyglutaricacidemia L2HGDH complex rearrangement c[1297T>C; 1299C>T] p[Leu433Pro; His434Tyr] "two single‐nucleotide substitutions separated by a single invariant T nucleotide in exon 10 (c[1297T→C; 1299c→t]; p[Leu433Pro; His434Tyr])" 2007 17475916

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.
2016 Shea, A., De Risio, L., Carruthers, H., Ekiri, A., Beltran, E. :
Clinical features and disease progression of L-2-hydroxyglutaric aciduria in 27 Staffordshire bull terriers. Vet Rec :, 2016. Pubmed reference: 27729589. DOI: 10.1136/vr.103783.
2014 Böhm, M., Henderson, H., Van der Zwan, H., Basson, S. :
L-2 hydroxyglutaric aciduria in a South African Staffordshire Bull Terrier. J S Afr Vet Assoc 85:1042, 2014. Pubmed reference: 24830757.
2012 Farias, F.H., Zeng, R., Johnson, G.S., Shelton, G.D., Paquette, D., O'Brien, D.P. :
A L2HGDH initiator methionine codon mutation in a Yorkshire terrier with L-2-hydroxyglutaric aciduria. BMC Vet Res 8:124, 2012. Pubmed reference: 22834903. DOI: 10.1186/1746-6148-8-124.
Sanchez-Masian, D.F., Artuch, R., Mascort, J., Jakobs, C., Salomons, G., Zamora, A., Casado, M., Fernandez, M., Recio, A., Lujan, A. :
L-2-hydroxyglutaric aciduria in two female Yorkshire terriers. J Am Anim Hosp Assoc 48:366-71, 2012. Pubmed reference: 22843824. DOI: 10.5326/JAAHA-MS-5967.
2010 Short, AD., Mellersh, CS., Platt, H., Carter, SD., Timofte, D., Lohi, H., Ollier, WE. :
Exonic mutations in the L2HGDH gene in Staffordshire bull terriers. Vet Rec 167:455-7, 2010. Pubmed reference: 20852250. DOI: 10.1136/vr.c4476.
2008 Scurrell, E., Davies, E., Baines, E., Cherubini, G.B., Platt, S., Blakemore, W., Williams, A., Schöniger, S. :
Neuropathological findings in a Staffordshire bull terrier with l-2-hydroxyglutaric aciduria. J Comp Pathol 138:160-4, 2008. Pubmed reference: 18295785. DOI: 10.1016/j.jcpa.2007.11.005.
2007 Penderis, J., Calvin, J., Abramson, C., Jakobs, C., Pettitt, L., Binns, M.M., Verhoeven, N.M., O'Driscoll, E., Platt, S.R., Mellersh, C.S. :
L-2-hydroxyglutaric aciduria: characterisation of the molecular defect in a spontaneous canine model. J Med Genet 44:334-40, 2007. Pubmed reference: 17475916. DOI: 10.1136/jmg.2006.042507.
2005 Garosi, LS., Penderis, J., McConnell, JF., Jakobs, C. :
L-2-hydroxyglutaric aciduria in a West Highland white terrier. Vet Rec 156:145-7, 2005. Pubmed reference: 15715007.
2003 Abramson, C.J., Platt, S.R., Jakobs, C., Verhoeven, N.M., Dennis, R., Garosi, L., Shelton, G.D. :
L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers Journal of Veterinary Internal Medicine 17:551-6, 2003. Pubmed reference: 12892307.
Abramson, C., Platt, S., Garosi, L., Penderis, J. :
L-2-hydroxyglutaric aciduria in Staffordshire bull terriers Veterinary Record 153:95-6, 2003. Pubmed reference: 12892272.
2001 Abramson, C., Garosi, L., Platt, S., Penderis, J. :
Metabolic defect in Staffordshire bull terriers Veterinary Record 149:532, 2001. Pubmed reference: 11708646.

Edit History


  • Created by Frank Nicholas on 06 Nov 2010
  • Changed by Frank Nicholas on 28 Sep 2011
  • Changed by Frank Nicholas on 12 Dec 2011
  • Changed by Frank Nicholas on 23 Nov 2012
  • Changed by Frank Nicholas on 19 Dec 2012