{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T11:58:57Z","timestamp":1791892737173,"version":"4.3.4"},"reference-count":22,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2025,6,17]],"date-time":"2025-06-17T00:00:00Z","timestamp":1750118400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animals"],"abstract":"<jats:p>Hereditary cataract is a progressive ocular disorder that is present also in Australian Shepherd and Miniature American Shepherd dogs, primarily caused by a mutation in the HSF4 gene. This study analyzed 233 Australian Shepherd dogs tested in Italy between 2020 and 2024 to evaluate genotypic and allelic frequencies of the main causative mutation. DNA samples were collected and tested, classifying individuals as homozygous wild-type, heterozygous, or homozygous mutant. The overall mutant allele frequency was 6.01%. Furthermore, a small subset of 13 Miniature American Shepherds was analyzed and genetic tests revealed that they were all homozygous wild type, suggesting no presence of the causative allele in this small sample. These findings confirm the importance of genetic testing in dog populations emphasizing the need for responsible selection practices to further minimize the disease\u2019s impact.<\/jats:p>","DOI":"10.3390\/ani15121778","type":"journal-article","created":{"date-parts":[[2025,6,17]],"date-time":"2025-06-17T05:52:47Z","timestamp":1750139567000},"page":"1778","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genotypic and Allelic Frequencies of Hereditary Cataract in the Italian Population of Australian Shepherd and Miniature American Shepherd Dogs"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9150-2388","authenticated-orcid":false,"given":"Maria Grazia","family":"De Iorio","sequence":"first","affiliation":[{"name":"Department of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0020-8798","authenticated-orcid":false,"given":"Giulietta","family":"Minozzi","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7738-3204","authenticated-orcid":false,"given":"Sara","family":"Ghilardi","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0327-8844","authenticated-orcid":false,"given":"Stefano","family":"Frattini","sequence":"additional","affiliation":[{"name":"Vetogene Laboratory\u2014ENCI Servizi SRL, 20139 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5247-3796","authenticated-orcid":false,"given":"Mara","family":"Bagardi","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4255-555X","authenticated-orcid":false,"given":"Paola Giuseppina","family":"Brambilla","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Paganelli","sequence":"additional","affiliation":[{"name":"Vetogene Laboratory\u2014ENCI Servizi SRL, 20139 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6589-6264","authenticated-orcid":false,"given":"Maria Cristina","family":"Cozzi","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-7396-9050","authenticated-orcid":false,"given":"Francesca","family":"Vecchi","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0129-0161","authenticated-orcid":false,"given":"Michele","family":"Polli","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Sciences, University of Milan, 26900 Lodi, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,6,17]]},"reference":[{"key":"ref_1","unstructured":"(2025, February 25). ASCA: The Australian Shepherd. Available online: https:\/\/asca.org\/aussies\/about-aussies\/the-australian-shepherd\/."},{"key":"ref_2","unstructured":"(2025, February 25). ENCI: Ente Nazionale Cinofilia Italiana. Available online: https:\/\/www.enci.it\/libro-genealogico\/razze\/australian-shepherd."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Donner, J., Anderson, H., Davison, S., Hughes, A.M., Bouirmane, J., Lindqvist, J., Lytle, K.M., Ganesan, B., Ottka, C., and Ruotanen, P. (2018). Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs. PLoS Genet., 14.","DOI":"10.1371\/journal.pgen.1007361"},{"key":"ref_4","unstructured":"Gelatt, K.N. (1999). Diseases of the lens and cataract formation. Veterinary Ophthalmology, Lippincott, Williams & Wilkins. [3rd ed.]."},{"key":"ref_5","unstructured":"Rubin, L.F. (1989). Inherited Eye Diseases in Purebred Dogs, Williams & Wilkins."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1111\/j.1748-5827.1978.tb05463.x","article-title":"Hereditary cataract in the dog","volume":"19","author":"Barnett","year":"1978","journal-title":"J. Small. Anim. Pract."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1111\/j.1463-5224.2005.00352.x","article-title":"Prevalence of primary breed-related cataracts in the dog in North America","volume":"8","author":"Gelatt","year":"2005","journal-title":"Vet. Ophthalmol."},{"key":"ref_8","unstructured":"Online Mendelian Inheritance in Animals (OMIA) (2025, May 27). Cataract, Early-Onset, HSF4-Related in Canis lupus familiaris (OMIA:001758-9615). Available online: https:\/\/omia.org\/OMIA001758\/9615\/."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1111\/j.1463-5224.2006.00496.x","article-title":"Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts","volume":"9","author":"Mellersh","year":"2006","journal-title":"Vet. Ophthalmol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1093\/jhered\/esm043","article-title":"Mutation in HSF4 associated with early but not late-onset hereditary cataract in the Boston Terrier","volume":"98","author":"Mellersh","year":"2007","journal-title":"J. Hered."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1111\/j.1463-5224.2009.00735.x","article-title":"Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd","volume":"12","author":"Mellersh","year":"2009","journal-title":"Vet. Ophthalmol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1016\/j.cvsm.2023.04.003","article-title":"Ophthalmic Disease and Screening in Breeding Dogs","volume":"53","author":"Diehl","year":"2023","journal-title":"Vet. Clin. N. Am. Small Anim. Pract."},{"key":"ref_13","unstructured":"Genetics Committee of the American College of Veterinary Ophthalmologists (2021). Ocular Disorders Presumed to Be Inherited in Purebred Dogs, American College of Veterinary Ophthalmologists. [13th ed.]."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1038\/ng921","article-title":"Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract","volume":"31","author":"Bu","year":"2002","journal-title":"Nat. Gen."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1007\/s00439-005-1309-9","article-title":"Locus heterogeneity in autosomal recessive congenital cataracts: Linkage to 9q and germline HSF4 mutations","volume":"117","author":"Forshew","year":"2005","journal-title":"Hum. Gen."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1016\/j.ajo.2006.03.056","article-title":"Novel HSF4 mutation causes congenital total white cataract in a Chinese family","volume":"142","author":"Ke","year":"2006","journal-title":"Am. J. Ophthalmol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1111\/j.1439-0388.2007.00663.x","article-title":"Evaluation of canine heat-shock transcription factor 4 as a candidate for primary cataracts in English Cocker Spaniels and wire-haired Kromfohrlanders","volume":"124","author":"Engelhardt","year":"2007","journal-title":"J. Anim. Breed. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/s40575-023-00127-y","article-title":"Cataracts in Havanese: Genome wide association study reveals two loci associated with posterior polar cataract","volume":"10","author":"Bellamy","year":"2023","journal-title":"Canine Med. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/s00335-015-9562-2","article-title":"A novel locus on canine chromosome 13 is associated with cataract in the Australian Shepherd breed of domestic dog","volume":"26","author":"Ricketts","year":"2015","journal-title":"Mamm. Genome"},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Agresti, A. (2007). An Introduction to Categorical Data Analysis, Wiley-Interscience. [2nd ed.].","DOI":"10.1002\/0470114754"},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Majchrakova, Z., Hrckova Turnova, E., Bielikova, M., Turna, J., and Dudas, A. (2023). The incidence of genetic disease alleles in Australian Shepherd dog breed in European countries. PLoS ONE, 18.","DOI":"10.1371\/journal.pone.0281215"},{"key":"ref_22","first-page":"175","article-title":"Frequency estimation of disease-causing mutations in the Belgian population of some dog breeds\u2014Part 1: Shepherds","volume":"85","author":"Beckers","year":"2016","journal-title":"Vlaams Diergeneeskd. Tijdschr."}],"container-title":["Animals"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2076-2615\/15\/12\/1778\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T17:53:24Z","timestamp":1760032404000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2076-2615\/15\/12\/1778"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,17]]},"references-count":22,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2025,6]]}},"alternative-id":["ani15121778"],"URL":"https:\/\/doi.org\/10.3390\/ani15121778","relation":{},"ISSN":["2076-2615"],"issn-type":[{"value":"2076-2615","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,17]]}}}