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Cornell University researchers identify Marfan syndrome in cats

Researchers at Cornell University have identified the first clinical and molecular cases of Marfan syndrome in domestic cats. The study, published in the journal Scientific Reports, focused on two feline siblings, Gary and Shaggy, who exhibited physical characteristics similar to humans with the condition.

The cats were initially noted for their disproportionately long legs. As they aged, veterinarians observed further symptoms, including bilateral lens dislocation in the eyes and dilation of the aortic root. Genetic sequencing revealed a mutation in the FBN1 gene, which is responsible for producing fibrillin-1, a protein essential for connective tissue structure.

This discovery provides a new reference for veterinary medicine, potentially allowing practitioners to recognize similar cases and aiding in the development of future genetic testing for feline connective tissue disorders.

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Scientific Reports · Shaggy