OMIA 001976-9615 : Glaucoma, primary open angle, ADAMTS17-related in Canis lupus familiaris
In Basset Fauve de Bretagne dogs, the same authors reported a likely causal mutation in the same gene: "a missense mutation in exon 11 causing a glycine to serine amino acid substitution ([CanFam3.1 chr3:40,808,345; c.1552G>A]; G519S) in the disintegrin-like domain of ADAMTS17 which is predicted to alter protein function".
Forman et al. (2015) reported a different likely causal variant in the Petit Basset Griffon Vendéen breed, namely "a 4.96 Mb inversion . . . with breakpoints in intron 12 of ADAMTS17 (chr3:40,812,274) and a downstream intergenic region (chr3:45,768,123)".
Oliver et al. (2018): "All affected [Primary open-angle glaucoma (POAG), primary lens luxation (PLL), or both] Shar-Pei were homozygous for a 6-bp deletion in exon 22 of ADAMTS17 predicted to affect the resultant protein. All unaffected Shar-Pei were heterozygous or homozygous for the wild-type allele. The variant sequence was significantly associated with affected status (diagnosis of POAG, PLL, or both). All dogs of other breeds were homozygous for the wild-type allele. The cDNA sequencing confirmed presence of the expected variant mRNA sequence in ocular tissue from the affected dog only. Gene expression analysis revealed a 4.24-fold decrease in the expression of ADAMTS17 in ocular tissue from the affected dog."Breeds: Basset Fauve de Bretagne, Basset Hound, Chinese Shar-Pei. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ADAMTS17||ADAM metallopeptidase with thrombospondin type 1 motif, 17||Canis lupus familiaris||3||NC_051807.1 (41014731..41340884)||ADAMTS17||Homologene, Ensembl, NCBI gene|
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|
|Petit Basset Griffon Vendéen||Glaucoma, primary open angle, ADAMTS17-related||ADAMTS17||inversion||CanFam3.1||Forman et al. (2015): "a 4.96 Mb inversion . . . with breakpoints in intron 12 of ADAMTS17 (chr3:40,812,274) and a downstream intergenic region (chr3:45,768,123)".||2015||26683476|
|Basset Hound||Glaucoma, primary open angle, ADAMTS17-related||ADAMTS17||deletion, small (<=20)||CanFam3.1||3||g.40614853_40614872del||"19 bp deletion in exon 2 of ADAMTS17 (CanFam3.1 chr3:40,614,853-40,614,872)"||2015||26474315|
|Basset Fauve de Bretagne||Glaucoma, primary open angle, ADAMTS17-related||ADAMTS17||missense||CanFam3.1||3||g.40808345G>A||c.1552G>A||p.G518S||2015||26474315||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|Chinese Shar-Pei||Primary open-angle glaucoma (POAG), primary lens luxation (PLL), or both||ADAMTS17||deletion, small (<=20)||CanFam3.1||3||g.40935387_40935392delCGTGGT||c.3070_3075delCGTGGT||p.Val1025_Val1026del||2018||29287154|
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.
|2019||Jeanes, E.C., Oliver, J.A.C., Ricketts, S.L., Gould, D.J., Mellersh, C.S. :|
|Glaucoma-causing <i>ADAMTS17</i> mutations are also reproducibly associated with height in two domestic dog breeds: selection for short stature may have contributed to increased prevalence of glaucoma. Canine Genet Epidemiol 6:5, 2019. Pubmed reference: 31131111. DOI: 10.1186/s40575-019-0071-6.|
|2018||Oliver, J.A.C., Rustidge, S., Pettitt, L., Jenkins, C.A., Farias, F.H.G., Giuliano, E.A., Mellersh, C.S. :|
|Evaluation of ADAMTS17 in Chinese Shar-Pei with primary open-angle glaucoma, primary lens luxation, or both. Am J Vet Res 79:98-106, 2018. Pubmed reference: 29287154. DOI: 10.2460/ajvr.79.1.98.|
|2017||Bedford, P.G. :|
|Open-angle glaucoma in the Petit Basset Griffon Vendeen. Vet Ophthalmol 20:98-102, 2017. Pubmed reference: 26945802. DOI: 10.1111/vop.12369.|
|Graham, K.L., McCowan, C., White, A. :|
|Genetic and Biochemical Biomarkers in Canine Glaucoma. Vet Pathol 54:194-203, 2017. Pubmed reference: 27681326. DOI: 10.1177/0300985816666611.|
|2016||Oliver, J.A., Forman, O.P., Pettitt, L., Mellersh, C.S. :|
|Correction: Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog. PLoS One 11:e0156192, 2016. Pubmed reference: 27192202. DOI: 10.1371/journal.pone.0156192.|
|2015||Forman, O.P., Pettitt, L., Komáromy, A.M., Bedford, P., Mellersh, C. :|
|A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17. PLoS One 10:e0143546, 2015. Pubmed reference: 26683476. DOI: 10.1371/journal.pone.0143546.|
|Komáromy, A.M., Petersen-Jones, S.M. :|
|Genetics of Canine Primary Glaucomas. Vet Clin North Am Small Anim Pract 45:1159-82, v, 2015. Pubmed reference: 26277300. DOI: 10.1016/j.cvsm.2015.06.003.|
|Oliver, J.A., Forman, O.P., Pettitt, L., Mellersh, C.S. :|
|Two Independent Mutations in ADAMTS17 Are Associated with Primary Open Angle Glaucoma in the Basset Hound and Basset Fauve de Bretagne Breeds of Dog. PLoS One 10:e0140436, 2015. Pubmed reference: 26474315. DOI: 10.1371/journal.pone.0140436.|
|Pizzirani, S. :|
|Definition, Classification, and Pathophysiology of Canine Glaucoma. Vet Clin North Am Small Anim Pract 45:1127-57, v, 2015. Pubmed reference: 26456751. DOI: 10.1016/j.cvsm.2015.06.002.|
- Created by Frank Nicholas on 30 Dec 2015
- Changed by Frank Nicholas on 30 Dec 2015
- Changed by Frank Nicholas on 19 Jan 2018
- Changed by Frank Nicholas on 30 May 2019