OMIA:000588-9615 : Lens luxation in Canis lupus familiaris
In other species: domestic cat
Categories: Vision / eye phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 613195 (trait) , 607511 (gene)
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: 2010
Species-specific name: Primary lens luxation; isolated canine ectopia lentis
Species-specific symbol: PPL
Species-specific description: see also OMIA 001976-9615 : Glaucoma, primary open angle, ADAMTS17-related in Canis lupus familiaris
Mapping: Sargan et al. (2007) conducted a genome scan with 364 microsatellites on "23 PLL-affected miniature bull terriers, together with an equal number of obligate PLL carriers with no luxation, and also 23 PLL-affected Lancashire heeler, with an equal number of obligate carriers with no luxation". A linkage analysis highlighted "a 6.3-Mbp region in the central part of chromosome 3".
By conducting a GWAS on 28 affected and 20 control Jack Russell Terriers, each genotyped with the CanineSNP20 BeadChip, Farias et al. (2010) highlighted the same region on chromosome CFA3 as identified by Sargan et al. (2008). Subsequent fine-mapping narrowed the region to a 664kb segment harbouring the positional candidate gene ADAMTS17.
Molecular basis: By sequencing the positional candidate gene ADAMTS17, Farias et al. (2010) identified the causal mutation as "a G→A transition at c.1473+1, which destroys the splice donor recognition site in intron 10".
Gould et al. (2011) "screened 121 dogs of 30 different breeds that were clinically affected with PLL for the previously described ADAMTS17 mutation [OMIA variant:365]. ... In addition to the three previously reported breeds we identified at least one dog of each of 14 different breeds that was homozygous for the ADAMTS17 mutation and clinically affected (Australian Cattle dog, Chinese crested dog, Jagdterrier [also known as the German hunt terrier], Parson Russell terrier, Patterdale terrier, Rat terrier, Sealyham terrier, Tenterfield terrier, Tibetan terrier, Toy fox terrier, Volpino Italiano, Welsh terrier, Wire-haired fox terrier, Yorkshire terrier).
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."
Prevalence: Tzouganakis et al. (2022) genotyped 82 Portuguese Podengo dogs in the UK genotyping for the ADAMTS17:c.1473+1G>A mutation. The allele frequency for the variant was estimated calculated as 0.09.
Breeds: Australian Cattle Dog, Border Collie, Chinese Crested Dog, Chinese Shar-Pei, German Hunting Terrier, Jack Russell Terrier, Lancashire heeler, Miniature Bull Terrier, Parson Russell Terrier, Patterdale Terrier, Portuguese Podengo, Rat Terrier, Sealyham Terrier, Tenterfield Terrier, Tibetan Terrier, Toy Fox Terrier, Volpino Italiano, Welsh Terrier, Wirehaired Fox Terrier, Yorkshire Terrier.
|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|
|365||Chinese Crested Dog German Hunting Terrier Jack Russell Terrier Lancashire heeler Miniature Bull Terrier Parson Russell Terrier Patterdale Terrier Rat Terrier Sealyham Terrier Tenterfield Terrier Tibetan Terrier Toy Fox Terrier Volpino Italiano Welsh Terrier Wirehaired Fox Terrier Yorkshire Terrier||Lens luxation||ADAMTS17||splicing||Naturally occurring variant||CanFam3.1||3||g.40782144G>A||c.1473+1G>A||XM_022416850.1; additional breeds reported by Gould et al. (2011)||rs1152388408||rs1152388408||2010||20375329||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
|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|
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.
|2022||Tzouganakis, I., Tsvetanova, A., Jeanes, E.C., Mellersh, C.S., Gould, D.J. :|
|Investigation of the allele frequency of the G>A intron 10 ADAMTS17 mutation causing primary lens luxation in the Portuguese Podengo breed. Vet Ophthalmol 25:85-89, 2022. Pubmed reference: 34870369 . DOI: 10.1111/vop.12960.|
|2019||Lewis, T.W., Mellersh, C.S. :|
|Changes in mutation frequency of eight Mendelian inherited disorders in eight pedigree dog populations following introduction of a commercial DNA test. PLoS One 14:e0209864, 2019. Pubmed reference: 30650096 . DOI: 10.1371/journal.pone.0209864.|
|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||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.|
|2015||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.|
|Gharahkhani, P., O'Leary, C.A., Duffy, D.L., Kyaw-Tanner, M. :|
|Potential modifying loci associated with primary lens luxation, pedal hyperkeratosis, and ocular phenotypes in Miniature Bull Terriers. Invest Ophthalmol Vis Sci 56:8288-96, 2015. Pubmed reference: 26720482 . DOI: 10.1167/iovs.15-18074.|
|2014||[No authors listed] :|
|[Lens luxation in dogs: a retrospective study of 134 dogs (2000-2011)]. Schweiz Arch Tierheilkd 156:125-31, 2014. Pubmed reference: 24568806 . DOI: 10.1024/0036-7281/a000562.|
|Montgomery, K.W., Labelle, A.L., Gemensky-Metzler, A.J. :|
|Trans-corneal reduction of anterior lens luxation in dogs with lens instability: a retrospective study of 19 dogs (2010-2013). Vet Ophthalmol :, 2014. Pubmed reference: 24405506 . DOI: 10.1111/vop.12142.|
|2013||Bellumori, T.P., Famula, T.R., Bannasch, D.L., Belanger, J.M., Oberbauer, A.M. :|
|Prevalence of inherited disorders among mixed-breed and purebred dogs: 27,254 cases (1995-2010). J Am Vet Med Assoc 242:1549-55, 2013. Pubmed reference: 23683021 . DOI: 10.2460/javma.242.11.1549.|
|2012||Gharahkhani, P., O’Leary, C., Duffy, D., Bernays, M., Kyaw-Tanner, M. :|
|Primary lens luxation in Australian Tenterfield and Miniature Bull Terriers is due to an old ADAMTS17 mutation and is an additive trait. Open Genomics Journal 5:7-13, 2012. DOI: 10.2174/1875693X01205010007.|
|2011||Gould, D., Pettitt, L., McLaughlin, B., Holmes, N., Forman, O., Thomas, A., Ahonen, S., Lohi, H., O'Leary, C., Sargan, D., Mellersh, C. :|
|ADAMTS17 mutation associated with primary lens luxation is widespread among breeds. Vet Ophthalmol 14:378-384, 2011. Pubmed reference: 22050825 . DOI: 10.1111/j.1463-5224.2011.00892.x.|
|2010||Farias, F.H., Johnson, G.S., Taylor, J.F., Giuliano, E., Katz, M.L., Sanders, D.N., Schnabel, R.D., McKay, S.D., Khan, S., Gharahkhani, P., O'Leary, C.A., Pettitt, L., Forman, O.P., Boursnell, M., McLaughlin, B., Ahonen, S., Lohi, H., Hernandez-Merino, E., Gould, D.J., Sargan, D.R., Mellersh, C. :|
|An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Invest Ophthalmol Vis Sci 51:4716-21, 2010. Pubmed reference: 20375329 . DOI: 10.1167/iovs.09-5142.|
|2009||Stuhr, CM., Schilke, HK., Forte, C. :|
|Intracapsular lensectomy and sulcus intraocular lens fixation in dogs with primary lens luxation or subluxation. Vet Ophthalmol 12:357-60, 2009. Pubmed reference: 19883465 . DOI: 10.1111/j.1463-5224.2009.00731.x.|
|2008||Oberbauer, AM., Hollingsworth, SR., Belanger, JM., Regan, KR., Famula, TR. :|
|Inheritance of cataracts and primary lens luxation in Jack Russell Terriers. Am J Vet Res 69:222-7, 2008. Pubmed reference: 18241019 . DOI: 10.2460/ajvr.69.2.222.|
|2007||Sargan, DR., Withers, D., Pettitt, L., Squire, M., Gould, DJ., Mellersh, CS. :|
|Mapping the mutation causing lens luxation in several terrier breeds. J Hered 98:534-8, 2007. Pubmed reference: 17573382 . DOI: 10.1093/jhered/esm029.|
|2004||Ketteritzsch, K., Hamann, H., Brahm, R., Grussendorf, H., Rosenhagen, CU., Distl, O. :|
|Genetic analysis of presumed inherited eye diseases in Tibetan Terriers. Vet J 168:151-9, 2004. Pubmed reference: 15301758 . DOI: 10.1016/S1090-0233(03)00143-6.|
|Ketteritzsch, K., Hamann, H., Brahm, R., Grussendorf, H., Rosenhagen, C.U., Distl, O. :|
|Genetic analysis of presumed inherited eye diseases in Tibetan Terriers. Vet J 168:151-9, 2004. Pubmed reference: 15301763 . DOI: 10.1016/j.tvjl.2003.08.005.|
|1998||Lazarus, JA., Pickett, JP., Champagne, ES. :|
|Primary lens luxation in the Chinese Shar Pei: clinical and hereditary characteristics. Vet Ophthalmol 1:101-107, 1998. Pubmed reference: 11397217 .|
|1990||Curtis, R. :|
|Lens luxation in the dog and cat. Veterinary Clinics of North America-Small Animal Practice 20:755-773, 1990. Pubmed reference: 2194357 .|
|1983||Curtis, R. :|
|Aetiopathological aspects of inherited lens dislocation in the Tibetan Terrier. J Comp Pathol 93:151-63, 1983. Pubmed reference: 6601667 .|
|Curtis, R., Barnett, KC., Startup, FG. :|
|Primary lens luxation in the miniature bull terrier. Vet Rec 112:328-30, 1983. Pubmed reference: 6602414 .|
|Curtis, R., Barnett, KC., Lewis, SJ. :|
|Clinical and pathological observations concerning the aetiology of primary lens luxation in the dog. Vet Rec 112:238-46, 1983. Pubmed reference: 6601878 .|
|1982||Curtis, R. :|
|Hereditary luxation of the canine lens. Animal health trust small animals centre, newmarket. Trans Ophthalmol Soc U K 102 Pt 3:398-402, 1982. Pubmed reference: 6985238 .|
|1980||Curtis, R., Barnett, KC. :|
|Primary lens luxation in the dog. J Small Anim Pract 21:657-68, 1980. Pubmed reference: 6969820 .|
|1979||Willis, M.B., Barnett, K.C., Tempest, W.M. :|
|Genetic aspects of lens luxation in the Tibetan Terrier Veterinary Record 104:409-412, 1979. Pubmed reference: 314700 .|
|1978||Barnett, K.C., Curtis, R. :|
|Lens luxation and progressive retinal atrophy in the Tibetan Terrier Veterinary Record :160 only, 1978. Pubmed reference: 308725 .|
|1971||Gelatt, K.N. :|
|Glaucoma and lens luxation in a dog Veterinary Medicine and Small Animal Clinician 66:1102-1104, 1971. Pubmed reference: 5209417 .|
|1970||Chandler, E.A. :|
|Lens luxation in the Webster Terrier Veterinary Record 86:145-146, 1970. Pubmed reference: 5461252 .|
|1969||Lawson, DD. :|
|Luxation of the crystalline lens in the dog. J Small Anim Pract 10:461-3, 1969. Pubmed reference: 5387868 .|
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