Long-Legged Cats Inform Genetics Studies

Discovery of a rare genetic variant in cats with Marfan syndrome highlights the importance of RNA sequencing for understanding inherited disease

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Two male littermate cats, Gary and Shaggy, had displaced eye lenses, unusually long limbs, and severe aortic enlargement consistent with Marfan syndrome.
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Whole-genome sequencing identified the same rare FBN1 variant in both cats, which was absent from genomic data for more than 1,000 other cats.
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Both cats inherited two copies of the variant, but long-read RNA sequencing showed that it did not completely disable FBN1.
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Approximately 73% of the affected cat’s FBN1 transcripts lacked exon 22, while the remaining transcripts retained it and may allow some normal fibrillin-1 production.
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The authors noted that the study involved only two related cats and did not directly analyze fibrillin-1 protein production.

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