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Both dogs had to be euthanized a few months after the onset of disease owing to the severity of their clinical signs. Pathological investigation of one affected dog revealed cerebral and cerebellar atrophy with cytoplasmic accumulation of autofluorescent material in degenerating neurons. The clinical signs in combination with the characteristic histopathology led to a tentative diagnosis of NCL. In the subsequent genetic investigation, the genome of one affected dog was sequenced. This revealed a duplication of 18\u2009819\u2009bp within the <jats:italic>MFSD8<\/jats:italic> gene. The duplication breakpoints were located in intron 3 and exon 12 of the gene and were predicted to disrupt the reading frame. Both affected dogs carried the duplication in a homozygous state and there was perfect cosegregation of the genotypes with the phenotype in a large pedigree, consistent with autosomal recessive inheritance. <jats:italic>MFSD8<\/jats:italic> loss\u2010of\u2010function variants are a known cause of NCL7 in human patients, dogs and other mammalian species. The existing knowledge on <jats:italic>MFSD8<\/jats:italic> together with the experimental data strongly suggests that the identified intragenic <jats:italic>MFSD8<\/jats:italic> duplication caused the disease in the Small Swiss Hounds. These results allow their diagnosis to be refined to NCL7 and enable genetic testing in the breed to avoid further unintentional carrier \u00d7 carrier matings.<\/jats:p>","DOI":"10.1111\/age.13485","type":"journal-article","created":{"date-parts":[[2024,10,22]],"date-time":"2024-10-22T07:30:10Z","timestamp":1729582210000},"page":"801-809","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Intragenic duplication disrupting the reading frame of <i>MFSD8<\/i> in Small Swiss Hounds with neuronal ceroid lipofuscinosis"],"prefix":"10.1111","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-0932-552X","authenticated-orcid":false,"given":"Stefan J.","family":"Rietmann","sequence":"first","affiliation":[{"name":"Vetsuisse Faculty, Institute of Genetics University of Bern  Bern 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