Equine diseases caused by known genetic mutations

Area of Science:

• Equine genetics and genomics
• Veterinary medicine
• Animal genetics

Background:

• The equine genome project and advanced mapping have significantly boosted genetic discovery in horses.
• Numerous genetic diseases in horses have been identified, with known causative mutations.

Purpose of the Study:

• To review equine genetic diseases with identified mutations.
• To provide comprehensive information on prevalence, clinical signs, etiology, diagnosis, treatment, and prognosis for these conditions.

Main Methods:

• Literature review of equine genetic diseases.
• Synthesis of current knowledge on identified mutations and their impact.

Main Results:

• Detailed information on eight specific equine genetic diseases is presented.
• Key genetic diseases reviewed include hyperkalemic periodic paralysis, severe combined immunodeficiency, and polysaccharide storage myopathy.

Conclusions:

• Understanding known equine genetic mutations is crucial for diagnosis and management.
• Continued genomic research promises further insights into equine health and disease.