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. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
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