DNA-based diagnosis of rare diseases in veterinary medicine: a 4.4 kb deletion of ITGB4 is associated with epidermolysis bullosa in Charolais cattle.

BACKGROUND Rare diseases in livestock animals are traditionally poorly diagnosed. Other than clinical description and pathological examination, the underlying causes have, for the most part, remained unknown. A single case of congenital skin fragility in cattle was observed, necropsy, histological and ultrastructural examinations were carried out and whole genome sequencing was utilized to identify the causative mutation. RESULTS A single purebred female Charolais calf with severe skin lesions was delivered full-term and died spontaneously after birth. The clinical and pathological findings exactly matched the gross description given by previous reports on epitheliogenesis imperfecta and epidermolysis bullosa (EB) in cattle. Histological and ultrastructural changes were consistent with EB junctionalis (EBJ). Genetic analysis revealed a previously unpublished ITGB4 loss-of-function mutation; the affected calf was homozygous for a 4.4 kb deletion involving exons 17 to 22, and the dam carried a single copy of the deletion indicating recessive inheritance. The homozygous mutant genotype did not occur in healthy controls of various breeds but some heterozygous carriers were found among Charolais cattle belonging to the affected herd. The mutant allele was absent in a representative sample of unrelated sires of the German Charolais population. CONCLUSION This is the first time in which a recessively inherited ITGB4 associated EBJ has been reported in cattle. The identification of heterozygous carriers is of importance in avoiding the transmission of this defect in future. Current DNA sequencing methods offer a powerful tool for understanding the genetic background of rare diseases in domestic animals having a reference genome sequence available.

Applications of informatics in veterinary medicine

This study used the peer-reviewed biomedical literature to define the veterinary informatics knowledgebase and associated subspecialties, and assesses the level of activity in the field over the thirty-year period from 1966 through 1995. Grateful Med was used to search the MEDLINE bibliographic database for articles that shared one or more Medical Subject Headings (MeSH) keywords from the veterinary and medical informatics subject headings. Each of ninety-five MeSH medical informatics terms was assigned to one of twelve veterinary informatics subspecialties. The number of articles retrieved by each MeSH keyword and subspecialty was calculated. A total of 611 articles were retrieved, representing the contributions of 1,338 authors published in 153 journals. The field experienced slow growth over the twenty-year period from 1966 through 1985. In the following decade, the cumulative number of veterinary informatics articles almost tripled and the percentage of veterinary-related articles that included an informatics component increased almost two-and-one-half fold. Despite this recent growth, the number of veterinary-related articles with an informatics component has never exceeded 1% of either the veterinary or medical informatics literature over the past thirty years, and representation of veterinary subspecialties in the literature varied widely.

Streptomycin and dihydrostreptomycin in veterinary medicine, with a supplementary section on pencillin-streptomycin mixtures (Pro-Strep) in feed: annotated bibliography, June 1960.

At head of title: Veterinary abstracts. Merck Sharp & Dohme Research Laboratories.

Specialized careers in veterinary medicine.

Mode of access: Internet.

The adrenocortical steroids in veterinary medicine : an annotated bibliography.

Includes index.

Streptomycin and dihydrostreptomycin; their practical application in veterinary medicine.

Mode of access: Internet.

Pharmacological activity and clinical use of sulfanilamide, sulfathiazole and sulfapyridine in veterinary medicine.

Mode of access: Internet.

Streptomycin and dihydrostreptomycin in veterinary medicine. Annotated bibliography, December, 1954.

Mode of access: Internet.

Streptomycin and dihydrostreptomycin in veterinary medicine. Annotated bibliography, August, 1950.

Mode of access: Internet.

Penicillin in veterinary medicine. Annotated bibliography.

Title varies slightly from the previous edition.

Cortone (cortisone, compound E) in veterinary medicine; a syllabus with annotated bibliography.

Mode of access: Internet.

Infectious sinusitis in turkeys; its treatment and control with streptomycin and other medicaments in veterinary medicine. Annotated bibliography, April, 1950.

Mode of access: Internet.