{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T16:11:49Z","timestamp":1790784709089,"version":"4.1.0"},"reference-count":9,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,6,21]],"date-time":"2023-06-21T00:00:00Z","timestamp":1687305600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy in domestic cats, and some inherited variants are available for genetic testing. A variant of the Alstrom syndrome protein 1 gene (<jats:italic>ALMS1<\/jats:italic>) was recently reported to be associated with HCM in the Sphynx cat breed (A3: g.92439157G&gt;C). Genetic screening of the variant, promoted by the Osservatorio Veterinario Italiano Cardiopatie and Genefast Laboratory, was offered to Sphynx cat owners and breeders in Italy. Genotype data were initially obtained by Sanger sequencing. In one case where the samples of a trio were available, inconsistency in the vertical transmission of the variant suggested an allele dropout (ADO) of the wt allele. A new external primer pair was designed as an alternative to the original. The larger PCR product obtained was sanger sequenced, and five novel single nucleotide variants (SNVs) not yet annotated in open\u2010access databases were detected. Three of these SNVs were within the original primer\u2010binding regions and were assumed to have caused ADO. The haplotype, including the ADO SNVs, was detected in two cats belonging to different lineages. To accurately genotype <jats:italic>ALMS1<\/jats:italic> g.92439157G&gt;C in the samples, we set up a real\u2010time TaqMan MGB assay while avoiding all surrounding SNVs. At g.92439157G&gt;C, for 136 Sphynx cats, g.92439157 C variant was highly widespread (freq. &gt;0.50). The present study reports five new variants surrounding <jats:italic>ALMS1<\/jats:italic> g.92439157G&gt;C that must be considered when designing the test. The study also indicates the need to verify the correspondence between the g.92439157 C variant frequency and the prevalence of HCM by increasing clinical visits and follow\u2010ups and finally to promote genetic counselling for accurate management of mating plans in Italian Sphynx cats.<\/jats:p>","DOI":"10.1111\/age.13340","type":"journal-article","created":{"date-parts":[[2023,6,24]],"date-time":"2023-06-24T10:55:38Z","timestamp":1687604138000},"page":"643-646","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["HCM\u2010associated <i>ALMS1<\/i> variant: Allele drop\u2010out and frequency in Italian Sphynx cats"],"prefix":"10.1111","volume":"54","author":[{"given":"Maria Elena","family":"Turba","sequence":"first","affiliation":[{"name":"Genefast srl  Forl\u00ec Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Ferrari","sequence":"additional","affiliation":[{"name":"Osservatorio Veterinario Italiano Cardiopatie  Azzano San Paolo Italy"},{"name":"Clinica Veterinaria Orobica Anicura Via Zanica  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaella","family":"Milanesi","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Science University of Milan  Lodi Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0970-4827","authenticated-orcid":false,"given":"Fabio","family":"Gentilini","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medical Sciences University of Bologna  Ozzano dell'Emilia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7863-1855","authenticated-orcid":false,"given":"Maria","family":"Longeri","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Animal Science University of Milan  Lodi Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,6,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2015.04.004"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1008926"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkab960"},{"key":"e_1_2_5_5_1","volume-title":"Quality management for molecular genetic testing; approved guideline. CLSI document MM20A","author":"CLSI","year":"2012"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2007.04.007"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi386"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010021\u201001740\u20105"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431\u2010019\u20100431\u20104"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.620337"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.13340","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T10:41:11Z","timestamp":1694601671000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.13340"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,21]]},"references-count":9,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["10.1111\/age.13340"],"URL":"https:\/\/doi.org\/10.1111\/age.13340","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,21]]},"assertion":[{"value":"2023-06-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-06-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}