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These breeds are also characterized by distinctive morphological traits, including a wide head, flat face and short-limbed dwarfism, which are characteristic of Robinow syndrome in humans, caused by defects in genes such as <jats:italic>DVL1<\/jats:italic> and <jats:italic>DVL3<\/jats:italic>. Based on these phenotypic and genetic similarities, it has previously been hypothesized that the canine <jats:italic>DVL2<\/jats:italic> variant results in a syndromic phenotype called the Robinow-like syndrome. In our study, we investigated the distribution of the <jats:italic>DVL2<\/jats:italic> variant in 1954 dogs from 15 breeds, identifying breeds with allele variation and enabling the dissection of the genotype\u2013phenotype correlation for the first time. With CT examinations in American Staffordshire Terriers, we confirmed that the <jats:italic>DVL2<\/jats:italic> allele is associated with caudal vertebral malformations and a brachycephalic phenotype. We also hypothesize that the variant may be linked to additional health conditions, including brachycephalic obstructive airway syndrome and congenital heart defects. Altogether, our study strengthens the role of <jats:italic>DVL2<\/jats:italic> as one of the contributors to the \u201cbulldog type\u201d morphology and features on the spectrum of human Robinow syndrome.<\/jats:p>","DOI":"10.1007\/s00439-021-02261-8","type":"journal-article","created":{"date-parts":[[2021,2,19]],"date-time":"2021-02-19T04:45:51Z","timestamp":1613709951000},"page":"1535-1545","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies"],"prefix":"10.1007","volume":"140","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2871-6890","authenticated-orcid":false,"given":"Julia E.","family":"Niskanen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6992-2463","authenticated-orcid":false,"given":"Vilma","family":"Reunanen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9901-7923","authenticated-orcid":false,"given":"Milla","family":"Salonen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7614-7207","authenticated-orcid":false,"given":"Danika","family":"Bannasch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5675-4771","authenticated-orcid":false,"given":"Anu K.","family":"Lappalainen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1087-5532","authenticated-orcid":false,"given":"Hannes","family":"Lohi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1976-5874","authenticated-orcid":false,"given":"Marjo K.","family":"Hyt\u00f6nen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,2,18]]},"reference":[{"key":"2261_CR1","doi-asserted-by":"publisher","first-page":"e0230160","DOI":"10.1371\/journal.pone.0230160","volume":"15","author":"PG Brambilla","year":"2020","unstructured":"Brambilla PG, Polli M, Pradelli D, Papa M, Rizzi R, Bagardi M, Bussadori C (2020) Epidemiological study of congenital heart diseases in dogs: Prevalence, popularity, and volatility throughout twenty years of clinical practice. 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