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