A de novo germline mutation of DLX3 in a Brown Swiss calf with tricho-dento-osseus-like syndrome.

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.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

05 Veterinary Medicine > Research Foci > DermFocus
05 Veterinary Medicine > Research Foci > Veterinary Public Health / Herd Health Management
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV)
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV) > Clinic for Ruminants
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV) > DKV - Clinical Radiology
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Experimental Clinical Research
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP) > Institute of Animal Pathology
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH) > Institute of Genetics
05 Veterinary Medicine > Department of Infectious Diseases and Pathobiology (DIP)
05 Veterinary Medicine > Department of Clinical Veterinary Medicine (DKV) > DKV - Dermatology
05 Veterinary Medicine > Department of Clinical Research and Veterinary Public Health (DCR-VPH)

UniBE Contributor:

Hofstetter, Sonja; Welle, Monika Maria; Schweizer, Daniela Esther; Balmer, Pierre; Roosje, Petra; Mock, Thomas; Meylan, Mireille; Jagannathan, Vidya and Drögemüller, Cord

Subjects:

600 Technology > 630 Agriculture
500 Science > 570 Life sciences; biology
500 Science > 590 Animals (Zoology)
600 Technology > 610 Medicine & health

ISSN:

0959-4493

Publisher:

Blackwell Science

Language:

English

Submitter:

Cord Drögemüller

Date Deposited:

11 Oct 2017 16:23

Last Modified:

09 Nov 2018 09:51

Publisher DOI:

10.1111/vde.12462

PubMed ID:

28670783

BORIS DOI:

10.7892/boris.101729

URI:

https://boris.unibe.ch/id/eprint/101729

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