A de novo germline mutation of DLX3 in a Brown Swiss calf with tricho-dento-osseus-like syndrome.
Vet Dermatol
; 28(6): 616-e150, 2017 Dec.
Article
em En
| MEDLINE
| ID: mdl-28670783
ABSTRACT
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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Base de dados:
MEDLINE
Assunto principal:
Doenças dos Bovinos
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Mutação em Linhagem Germinativa
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Proteínas de Homeodomínio
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Anormalidades Craniofaciais
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Hipoplasia do Esmalte Dentário
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Doenças do Cabelo
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article