OMIA 002071-9615 : Macular corneal dystrophy in Canis lupus familiaris |
Possibly relevant human trait(s) and/or gene(s) (MIM number):
217800
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal Recessive
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2016
Molecular basis:
By sequencing the most likely comparative candidate gene (CHST6) in one affected and one normal Labrador Retriever, Tetas Pont et al. (2016) identified the likely causal mutation as c.814C>A; p.R272S. Supporting evidence was provided by evidence that "six LR affected with MCD were homozygous for the mutant allele, while 140/151 control LR were homozygous for the wild-type allele and 11/151 were heterozygous for the mutation". Frustratingly, CHST6 is called LOC489707 in NCBI Gene.
Prevalence:
As reported by Tetas Pont et al. (2016), "The mutant allele was present in the unrelated LR cohort [of 89 unrelated Labrador Retrievers with unknown clinical status] at a frequency of 0.017, suggesting carrier and affection rates of 3.3% and 0.028%, respectively."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| LOC489707 | carbohydrate sulfotransferase 6 | Canis lupus familiaris | 5 | NC_006587.3 (75266932..75280790) | LOC489707 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Labrador Retriever | Macular corneal dystrophy | LOC489707 | missense | CanFam3.1 | 5 | g.75279699C>A | c.814C>A | p.R272S | 2016 | 26585178 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool |
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 | Tetas Pont, R., Downs, L., Pettitt, L., Busse, C., Mellersh, C.S. : | |
| A Carbohydrate Sulfotransferase-6 (CHST6) gene mutation is associated with Macular Corneal Dystrophy in Labrador Retrievers. Vet Ophthalmol 19:488-492, 2016. Pubmed reference: 26585178. DOI: 10.1111/vop.12332. | ||
| 2013 | Busse, C., Kafarnik, C., Tetas, R. et al. : | |
| Case report: A form of macular corneal dystrophy in a Labrador retriever. Abstract presentation in European College of Veterinary Ophthalmologists :, 2013. |
Edit History
- Created by Frank Nicholas on 08 Nov 2016
- Changed by Frank Nicholas on 08 Nov 2016
- Changed by Frank Nicholas on 26 Oct 2017