{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T08:57:47Z","timestamp":1759481867369,"version":"3.40.5"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,12,6]],"date-time":"2021-12-06T00:00:00Z","timestamp":1638748800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Veterinary Ophthalmology"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To establish the allele frequency of the PLL\u2010causing G&gt;A intron 10 <jats:italic>ADAMTS17<\/jats:italic>\u00a0mutation in the Portuguese Podengo population in the UK and investigate a possible correlation between the mutation and short stature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Two groups of dogs (Group 1 and Group 2) were recruited for the purpose of the study. Group 1 (<jats:italic>n<\/jats:italic>\u00a0=\u00a040) consisted of dogs which were genotyped only and Group 2 (<jats:italic>n<\/jats:italic>\u00a0=\u00a042) consisted of dogs which were genotyped, underwent a full ophthalmological examination and also had their height measured at the withers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In Group 1, genotyping for the ADAMTS17:c.1473+1G&gt;A mutation confirmed 1\/40\u00a0homozygous for the mutated allele (\u2212\/\u2212), 7\/40\u00a0heterozygous for the mutated allele (+\/\u2212), and 32\/40\u00a0homozygous for the wild\u2010type allele (+\/+) dogs. In Group 2, genotyping of the dogs confirmed 6\/42\u00a0heterozygous for the mutated allele (+\/\u2212) and homozygous for the wild\u2010type allele (+\/+) dogs. In total, 1\/82 (1.2%) dogs were confirmed to be homozygous for the mutated allele, 13\/82 (15.8%) heterozygous for the mutated allele and 68\/82 (83%) homozygous for the wild\u2010type allele. The frequency of the mutated allele across both groups was calculated as 0.09. A statistically significant correlation between the mutation and short stature could not be established (<jats:italic>p<\/jats:italic>\u00a0=\u00a0.590).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The frequency of the mutation calculated in this study (0.09) is high. Genetic testing should be considered for each dog prior to breeding with a view of selective breeding.<\/jats:p><\/jats:sec>","DOI":"10.1111\/vop.12960","type":"journal-article","created":{"date-parts":[[2021,12,6]],"date-time":"2021-12-06T11:44:30Z","timestamp":1638791070000},"page":"85-89","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Investigation of the allele frequency of the G&gt;A intron 10 <i>ADAMTS17<\/i> mutation causing primary lens luxation in the Portuguese Podengo breed"],"prefix":"10.1111","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4313-2180","authenticated-orcid":false,"given":"Ioannis","family":"Tzouganakis","sequence":"first","affiliation":[{"name":"Davies Veterinary Specialists Higham Gobion UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agata","family":"Tsvetanova","sequence":"additional","affiliation":[{"name":"Davies Veterinary Specialists Higham Gobion UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0806-5442","authenticated-orcid":false,"given":"Emily C.","family":"Jeanes","sequence":"additional","affiliation":[{"name":"Department of Clinical Science and Services Ophthalmology Service The Royal Veterinary College University of London London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cathryn S.","family":"Mellersh","sequence":"additional","affiliation":[{"name":"Animal Health Trust Newmarket UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Gould","sequence":"additional","affiliation":[{"name":"Davies Veterinary Specialists Higham Gobion UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,12,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1748-5827.1980.tb05958.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0195-5616(90)50061-3"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1463-5224.2011.00892.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.09-5142"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.2460\/ajvr.79.1.98"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40575-019-0071-6"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0156192"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/vop.12369"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0143546"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/biom10040596"},{"key":"e_1_2_7_12_1","unstructured":"TsvetanovaA TzouganakisI SmithKM.Case report: Primary lens luxation in the Portuguese Podengo dog associated with theADAMTS17 gene mutation. Annual Scientific meeting of the European College of Veterinary Ophthalmology.2019;P37."}],"container-title":["Veterinary Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/vop.12960","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/vop.12960","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/vop.12960","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T10:10:30Z","timestamp":1693217430000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/vop.12960"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,6]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["10.1111\/vop.12960"],"URL":"https:\/\/doi.org\/10.1111\/vop.12960","archive":["Portico"],"relation":{},"ISSN":["1463-5216","1463-5224"],"issn-type":[{"type":"print","value":"1463-5216"},{"type":"electronic","value":"1463-5224"}],"subject":[],"published":{"date-parts":[[2021,12,6]]},"assertion":[{"value":"2021-03-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}