Two brothers named Gary and Shaggy have helped Cornell University researchers make a rare genetic discovery. In a study published in Scientific Reports , scientists reported the first molecular characterization of Marfan syndrome in domestic cats, a condition primarily recognized in humans
Gary and Shaggy first stood out as kittens because of their unusually long limbs. As they grew older, veterinarians also identified abnormalities in their eye structures and an enlarged aorta, the body's main artery. Together, these symptoms suggested Marfan syndrome, an inherited condition that weakens connective tissues throughout the body. The disorder affects approximately 1 in 4,000 people, but these brothers represented the first known documented feline cases
"The findings provide a foundation for improved veterinary diagnostics," said senior author Dr. Jacquelyn Evans, assistant professor in the College of Veterinary Medicine and at the Baker Institute for Animal Health. "It can help veterinarians recognize similar cases in the future and may help develop genetic tests."
To determine what caused the brothers' unusual symptoms, researchers from multiple disciplines conducted thorough medical examinations and analyzed their DNA. Their investigation identified changes in a gene called FBN1 , which provides instructions for producing fibrillin-1