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 10Â 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.
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.
Source: Hofstetter, S., Welle, M., Gorgas, D., Balmer, P., Roosje, P., Mock, T., Meylan, M., Jagannathan, V. and Drögemüller, C. (2017), A de novo germline mutation of DLX3 in a Brown Swiss calf with tricho-dento-osseus-like syndrome. Veterinary Dermatology, 28: 616–e150. doi: 10.1111/vde.12462
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