Roumelioti K. DVM, MSc, Medical Genetics: Clinic & Laboratory Direction, Department of Medicine, Private Practitioner, Vet.Center of Reproduction, Athens, Greece
Kafasis T. DVM, MSc, Private Practitioner, Veterinary Center of Polygono, Athens, Greece
Introduction
This abstract presents five cases that were investigated for genetic predisposition thus providing the veterinary clinician the acknowledgment of the role of genetic counseling as a diagnostic and predictive tool.
Clinical cases
A genetic test was performed on degenerative myelopathy in a Wire Fox Terrier in the context of a preventive genetic test, cystitis in Siam cat and treatment planning, progressive retinal atrophy in Miniature Schnauzer dog for being used as a stud dog, Von Willebrand’s disease in Doberman’s dog for pre- and intraoperatively management, seizure as a side effect after a single administration of ondansetron. The material was obtained by buccal smears and tested by TaqMan PCR (Polymerase Chain Reaction), SNP-assay (Single Nucleotide Polymorphisms), PCR-RLFP (Restriction Fragment Length Polymorphism) and WES (Wide Exome Sequencing) methods.
Results
Pathogenic mutation was identified in the SOD1 gene implicated in degenerative myelopathy but characterised by low penetration in this breed, in the SLC7A9 gene for cystitis, confirming perineal urethrostomy as an appropriate therapeutic option and in the vWD gene (c.7437G >A mutation, heterozygosity) for Von Willebrand type 1 disease, confirming the hemorrhagic predisposition. No mutations were identified in the MDR1 and HIVEP3 genes responsible for drug intoxications and progressive retinal atrophy respectively.
Conclusions
The application of clinical genetic counseling can be integrated and contribute to better management of genetic diseases in modern practice.
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