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We investigated a miniature poodle with early onset generalized scaling, dry and irregularly thickened skin, paw pad hyperkeratosis and abnormalities in hair and teeth. The clinical signs of ichthyosis were confirmed by histopathological examination, which revealed mild epidermal hyperplasia and lamellar orthokeratotic hyperkeratosis. A hereditary condition was suspected and a genetic investigation was initiated. We sequenced the whole genome of the affected dog and searched for potentially causative variants in functional candidate genes for the observed phenotype. The analysis revealed a heterozygous in\u2010frame deletion in <jats:italic>DSP<\/jats:italic>, NC_049256.1:g.8804542_8804544del resulting from a de novo mutation event as evidenced by genotyping leukocyte DNA from both parents. The 3\u2009bp deletion is predicted to remove one aspartic acid without disrupting the open reading frame (XM_038584124.1:c.1821_1823del, XP_038440052.1:p.(Asp608del)). The <jats:italic>DSP<\/jats:italic> gene encodes desmoplakin, a desmosomal plaque protein, responsible for cell\u2013cell adhesion to provide resistance to mechanical stress in epidermal and cardiac tissues. We hypothesize that the deletion of one amino acid in the N\u2010terminal globular head domain acts in a dominant negative manner and thus impairs the proper connection with other proteins. Several variants in <jats:italic>DSP<\/jats:italic> in humans and cattle have been described to result in different phenotypes associated with hair and skin abnormalities, sometimes in combination with variable cardiac and\/or dental manifestations. In conclusion, we characterized a new syndromic ichthyosis phenotype in a dog and identified a de novo 3\u2009bp deletion in the <jats:italic>DSP<\/jats:italic> gene as causal variant.<\/jats:p>","DOI":"10.1111\/age.13467","type":"journal-article","created":{"date-parts":[[2024,8,13]],"date-time":"2024-08-13T11:26:08Z","timestamp":1723548368000},"page":"725-732","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Heterozygous <i>DSP<\/i> in\u2010frame deletion in a poodle with syndromic ichthyosis involving additional hair and tooth abnormalities"],"prefix":"10.1111","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2714-2370","authenticated-orcid":false,"given":"Sarah","family":"Kiener","sequence":"first","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"},{"name":"Dermfocus University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-3669-4323","authenticated-orcid":false,"given":"Georg","family":"Lehner","sequence":"additional","affiliation":[{"name":"Kleintierpraxis Lehner \u2013 Fachpraxis f\u00fcr Dermatologie  Buch Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8155-0041","authenticated-orcid":false,"given":"Vidhya","family":"Jagannathan","sequence":"additional","affiliation":[{"name":"Institute of Genetics, Vetsuisse Faculty University of Bern  Bern Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4876-5112","authenticated-orcid":false,"given":"Monika","family":"Welle","sequence":"additional","affiliation":[{"name":"Institute of Animal Pathology, Vetsuisse Faculty University of Bern  Bern 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