Hofstetter, Sonja; Welle, Monika Maria; Gorgas, Daniela; Balmer, Pierre; Roosje, Petra; Mock, Thomas; Meylan, Mireille; Jagannathan, Vidhya; Drögemüller, Cord (2017). A de novo germline mutation of DLX3 in a Brown Swiss calf with tricho-dento-osseus-like syndrome. Veterinary dermatology, 28(6), 616-e150. Blackwell Science 10.1111/vde.12462
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OBJECTIVE A novel congenital disorder affecting a calf was observed, and its phenotype and genetic mutation identified. ANIMAL A six-month-old female Brown Swiss calf. METHODS Diagnostic investigation and whole genome sequencing of a case parent trio was performed. RESULTS The calf had a dull kinky coat with mild hypotrichosis, and teeth with brown staining and enamel defects. Histological examination of skin biopsies was compatible with a follicular dysplasia. Radiography and computed tomography revealed thickening of the skull bones and large pulp cavities with a marked thinning of enamel affecting all teeth. A de novo germline mutation affecting the distal-less homeobox gene (DLX3) was identified. The 10 bp frameshift mutation in exon 3 of the bovine DLX3 gene is predicted to replace the second C-terminal transactivation domain of the wild-type protein by a recoded peptide of 99 amino acids without any sequence similarity. CONCLUSION AND CLINICAL IMPORTANCE A causative mutation for a sporadic phenotype resembling human tricho-dento-osseous syndrome was identified after detection of a de novo germline mutation in the DLX3 gene.
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