OMIA:001371-9615 : L-2-hydroxyglutaricacidemia in Canis lupus familiaris |
In other species: domestic cat
Categories: Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 236792 (trait) , 609584 (gene)
Links to MONDO diseases:
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_051812.1 (26937999..26899306) | L2HGDH | Homologene, Ensembl , NCBI gene |
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.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
| OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Inferred EVA rsID | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 735 | Staffordshire Bull Terrier | L-2-hydroxyglutaricacidemia | L2HGDH | delins, small (<=20) | Naturally occurring variant | CanFam3.1 | 8 | g.26723470_26723472delinsAAG | c.1298_1300delinsCTT | p.(L433_H434delinsPY) | XM_858437.5; XP_863530.2; published as ENSCAFG00000014237; CanFam1.0: (c[1297T→C; 1299c→t]; p[Leu433Pro; His434Tyr]; coordinates in the table have been updated to a recent reference genome and / or transcript | 2007 | 17475916 | ||||
| 427 | Yorkshire Terrier | L-2-hydroxyglutaricacidemia | L2HGDH | missense | Naturally occurring variant | CanFam3.1 | 8 | g.26760351T>C | c.1A>G | p.(M1?) | XM_858437.5; published as p.(Met1?) | 2012 | 22843824 | Genomic coordinates in CanFam3.1 provided by Robert Kuhn |
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., Platt, S., Garosi, L., Penderis, J. : |
| L-2-hydroxyglutaric aciduria in Staffordshire bull terriers Veterinary Record 153:95-6, 2003. Pubmed reference: 12892272 . | |
| 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 . | |
| 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