MT21-013: Investigating Pectus Excavatum in Cats Using Rigorous Phenotyping and Population-Scale High- Throughput Sequencing

Thoracic deformity in domestic cats shows a considerable bias in breeds but is present across all. Multiple conditions are often conflated together such as pectus excavatum (PE) and flat-chested kitten syndrome (FCK). Both conditions cause severe hardship, and considerable veterinary intervention for positive outcomes, depending on the severity of the disease. Our lab has been passively collecting both PE and FCK DNA samples for over 10 years and has assembled a cohort of DNA suitable for genome-wide analyses. A requirement for inclusion in the proposed study is detailed radiography provided in a raw data format suitable for computational analysis by our lab independent of external veterinary diagnosis. We propose to use an assembled cohort of 40 cats in year one, with 20+ more in year 2 to examine only PE to the exclusion of FCK to ensure targeting of a precise manifestation of thoracic deformity. This rigorous phenotypic requisite for study inclusion, coupled with computational approaches utilized frequently in our lab to map traits and diseases across species will result in the identification of genomic variation influencing the occurrence and severity of PE, which will have a considerable effect on domestic cat health. Screening for genetic variants in the population via rapid testing will follow the documentation of each associated mutation, followed by a submission to Online Mendelian Inheritance in Animals. Since PE affects multiple species, including humans and canines, we expect to leverage our findings to further our understanding of thoracic deformity across mammals