Source: Cornell University
Researchers at Cornell University and the Baker Institute for Animal Health have documented the first molecularly characterized cases of Marfan syndrome in domestic cats. The condition was identified in feline siblings Gary and Shaggy, whose unusually long limbs, eye abnormalities, and enlarged aortas suggested the rare inherited connective tissue disorder.
Working with specialists from several institutions, researchers combined clinical evaluations with genetic sequencing. They discovered that both cats carried two altered copies of the FBN1 gene, which produces fibrillin-1, a protein important to connective tissues throughout the body.
In humans, one altered FBN1 copy can cause Marfan syndrome, while inheriting two is extremely rare. Researchers found that Gary and Shaggy’s genetic variant only partially disrupted normal gene processing, allowing enough fibrillin-1 function for them to survive into adulthood.
Researchers say the discovery could help veterinarians recognize similar feline cases and demonstrates how collaboration among pet owners, Veterinary specialists, and genetic researchers can advance understanding of inherited diseases.