{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T02:03:27Z","timestamp":1778292207427,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T00:00:00Z","timestamp":1601251200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["RR002512"],"award-info":[{"award-number":["RR002512"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["OD010939"],"award-info":[{"award-number":["OD010939"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Mucopolysaccharidosis (MPS) VI is a lysosomal storage disease caused by a deficiency of <jats:italic>N<\/jats:italic>\u2010acetylgalactosamine\u20104\u2010sulfatase, also called arylsulfatase B (ARSB, EC 3.1.6.12). Dogs with MPS VI show progressive predominantly oculoskeletal signs homologous to those in human and feline patients. We report herein two pathogenic <jats:italic>ARSB<\/jats:italic> gene variants in Miniature Pinscher and Miniature Schnauzer dogs with MPS VI and a genotyping survey in these breeds. All exons and adjacent regions of the <jats:italic>ARSB<\/jats:italic> gene were sequenced from three affected Miniature Pinschers and three affected Miniature Schnauzers. Allelic discrimination assays were used for genotyping. A missense variant (NM_001048133.1:c.910G&gt;A) was found in exon 5 of MPS VI\u2010affected Miniature Pinschers that is predicted to result in a deleterious amino acid substitution of a highly conserved glycine to arginine (NP_001041598.1:p.Gly304Arg). In MPS VI\u2010affected Miniature Schnauzers, a 56\u00a0bp deletion (NM_001048133.1:c.\u201024_32del) was found at the junction of exon 1 and its upstream region, predicting no enzyme synthesis. All clinically affected Miniature Pinschers and Miniature Schnauzers were homozygous for the respective variants, and screened healthy dogs in each breed were either heterozygous or homozygous for the wt allele. Whereas the Miniature Pinscher variant seemed to occur commonly (0.133 allele frequency), the Miniature Schnauzer variant was presumed to be rare. In conclusion, two breed\u2010specific pathogenic <jats:italic>ARSB<\/jats:italic> gene variants were identified in Miniature Pinscher and Miniature Schnauzer dogs with MPS VI, allowing for genotyping and informed breeding to prevent the production of affected offspring.<\/jats:p>","DOI":"10.1111\/age.13005","type":"journal-article","created":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T13:54:40Z","timestamp":1601301280000},"page":"982-986","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<i>ARSB<\/i> gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs"],"prefix":"10.1111","volume":"51","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7736-1101","authenticated-orcid":false,"given":"K.","family":"Raj","sequence":"first","affiliation":[{"name":"Section of Medical Genetics (PennGen) School of Veterinary Medicine University of Pennsylvania Philadelphia PA 19104\u20106010 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Berman\u2010Booty","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics (PennGen) School of Veterinary Medicine University of Pennsylvania Philadelphia PA 19104\u20106010 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Foureman","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics (PennGen) School of Veterinary Medicine University of Pennsylvania Philadelphia PA 19104\u20106010 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4770-4107","authenticated-orcid":false,"given":"U.","family":"Giger","sequence":"additional","affiliation":[{"name":"Section of Medical Genetics (PennGen) School of Veterinary Medicine University of Pennsylvania Philadelphia PA 19104\u20106010 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,9,28]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI935"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.16.8214"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mgene.2015.12.004"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/age.12834"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1080\/00480169.2011.642791"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.11.003"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.10.008"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.9962"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1939-1676.1995.tb03306.x"},{"key":"e_1_2_5_11_1","first-page":"272","article-title":"Mucopolysaccharidosis type VI in a juvenile miniature schnauzer dog with concurrent hypertriglyceridemia, necrotizing pancreatitis, and diabetic ketoacidosis","volume":"56","author":"P\u00e9rez ML.","year":"2015","journal-title":"The Canadian Veterinary Journal"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-60121-3"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.3233\/PRM-2010-0104"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23613"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:5<410::AID-HUMU9>3.0.CO;2-Q"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/0300985817732115"}],"container-title":["Animal 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