OMIA:001976-9615 : Glaucoma, primary open angle, ADAMTS17-related in Canis lupus familiaris
Categories: Vision / eye phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2015
Species-specific name: Weill-Marchesani-like syndrome; goniodysgenesis
Species-specific symbol: POAG
Species-specific description: see also OMIA 000588-9615 : Lens luxation in Canis lupus familiaris
Markers: Jeanes et al. (2019) showed that the likely causal variants for this disorder are significantly associated with height in the Petit Basset Griffon Vendeen and Shar Pei breeds, "with affected individuals being significantly shorter on average than both carriers of the mutation and clear dogs", suggesting "that selecting dogs to be of a specific short height may have increased the frequency of the mutations within these breeds".
Molecular basis: In Basset Hounds, Oliver et al. (2015) reported a likely causal mutation: "a 19 bp deletion in exon 2 that alters the reading frame and is predicted to lead to a truncated protein" (CanFam3.1 chr3:40,614,853–40,614,872).
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, Petit Basset Griffon Vendéen.
|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|
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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|
|685||Basset Hound||Glaucoma, primary open angle, ADAMTS17-related||ADAMTS17||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||3||g.40614853_40614872del||c.194_213del||p.(L68Gfs*)||XM_022416850.1; XP_022272558.1||2015||26474315|
|96||Basset Fauve de Bretagne||Glaucoma, primary open angle, ADAMTS17-related||ADAMTS17||missense||Naturally occurring variant||CanFam3.1||3||g.40808345G>A||c.1552G>A||p.(G518S)||XM_022416851.1; XP_022272559.1||2015||26474315||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|1086||Petit Basset Griffon Vendéen||Glaucoma, primary open angle, ADAMTS17-related||ADAMTS17||inversion||Naturally occurring variant||CanFam3.1||3||g.40812274_45768123inv||c.1721+2668_*4831255inv||XM_545825.4; 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) [Canfam3.1]… Analysis of RNAseq data revealed novel exon expression for ADAMTS17 due to cryptic splicing occurring 3’ of the exons located immediately upstream of the inversion event."||2015||26683476|
|942||Chinese Shar-Pei||Primary open-angle glaucoma (POAG), primary lens luxation (PLL), or both||ADAMTS17||deletion, small (<=20)||Naturally occurring variant||CanFam3.1||3||g.40935387_40935392del||c.3069_3074del||p.(V1024_V1025del)||XM_014112382.2; XP_013967857.1; published as c.3070_3075delCGTGGT; p.(V1025_V1026del)||2018||29287154|
Cite this entry
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.
|2023||Meadows, J.R.S., Kidd, J.M., Wang, G.D., Parker, H.G., Schall, P.Z., Bianchi, M., Christmas, M.J., Bougiouri, K., Buckley, R.M., Hitte, C., Nguyen, A.K., Wang, C., Jagannathan, V., Niskanen, J.E., Frantz, L.A.F., Arumilli, M., Hundi, S., Lindblad-Toh, K., Ginja, C., Agustina, K.K., André, C., Boyko, A.R., Davis, B.W., Drögemüller, M., Feng, X.Y., Gkagkavouzis, K., Iliopoulos, G., Harris, A.C., Hytönen, M.K., Kalthoff, D.C., Liu, Y.H., Lymberakis, P., Poulakakis, N., Pires, A.E., Racimo, F., Ramos-Almodovar, F., Savolainen, P., Venetsani, S., Tammen, I., Triantafyllidis, A., vonHoldt, B., Wayne, R.K., Larson, G., Nicholas, F.W., Lohi, H., Leeb, T., Zhang, Y.P., Ostrander, E.A. :|
|Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol 24:187, 2023. Pubmed reference: 37582787 . DOI: 10.1186/s13059-023-03023-7.|
|2021||Genetics Committee of the American College of Veterinary Opthalmologists :|
|The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf :, 2021.|
|2019||Jeanes, E.C., Oliver, J.A.C., Ricketts, S.L., Gould, D.J., Mellersh, C.S. :|
|Glaucoma-causing ADAMTS17 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.|
|Hubmacher, D., Schneider, M., Berardinelli, S.J., Takeuchi, H., Willard, B., Reinhardt, D.P., Haltiwanger, R.S., Apte, S.S. :|
|Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease. Sci Rep 7:41871, 2017. Pubmed reference: 28176809 . DOI: 10.1038/srep41871.|
|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.|
|Genetics Committee of the American College of Veterinary Ophthalmologists :|
|Ocular Disorders Presumed to be Inherited in Purebred Dogs (“The Blue Book”), 8th edition :354-356, 2015.|
|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
- Changed by Imke Tammen2 on 16 Dec 2021
- Changed by Imke Tammen2 on 07 May 2023