Researchers at Cornell University's College of Veterinary Medicine and the Baker Institute of Animal Health have published the first molecular characterization of Marfan syndrome in domestic cats, as detailed in the Sept. 19 issue of Scientific Reports. Senior author Dr. Jacquelyn Evans, an assistant professor at the Department of Biomedical Sciences and the Baker Institute, stated that these findings lay the groundwork for improved veterinary diagnostics, enabling veterinarians to recognize similar cases in the future and potentially leading to the development of genetic tests.
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The case centers around two feline siblings, Gary and Shaggy, who exhibited long limbs as kittens. Subsequent examinations revealed issues with their eye structures and enlargement of the aorta, prompting veterinarians to consider Marfan syndrome, a rare inherited disorder primarily seen in humans that weakens connective tissues. This condition affects roughly 1 in 4,000 people, marking this as the first documented instance in cats.
The investigation brought together veterinary specialists and genetic experts from the Baker Institute for Animal Health, along with collaborators from Ghent University in Belgium, the University of Pennsylvania, and the Schwarzman Animal Medical Center in New York City. This multidisciplinary team utilized detailed clinical evaluations and genetic sequencing to identify the gene linked to the condition: FBN1. This gene encodes for fibrillin-1, a crucial protein found in connective tissues throughout the body, including in blood vessels, bones, ligaments, skin, and eyes.
Both Gary and Shaggy were found to carry two altered copies of the FBN1 gene, having inherited a changed copy from each parent. In humans, a single altered copy can result in Marfan syndrome, while inheriting two altered copies is exceedingly rare and can disrupt normal fibrillin-1 production. Further analysis revealed that the variant in Gary and Shaggy did not entirely shut down the gene but instead partially disrupted its processing, allowing some normal function. This partial functionality explains how the cats reached adulthood despite possessing two copies of a variant that would typically cause more severe symptoms.
Dr. Evans highlighted that this discovery exemplifies the collaboration between pet owners and veterinary and genetic experts, which could benefit other animals in the future. It also emphasizes the comparative approach central to research at the Baker Institute for Animal Health.