康奈尔大学研究人员在两只腿部异常长的猫中发现了首例分子特征化的家猫马方综合征病例1。这两只名为Gary和Shaggy的兄弟猫各携带两个FBN1基因的改变副本，分别从父母各继承一个1。FBN1基因编码纤维蛋白-1，对结缔组织健康至关重要1，其改变导致结缔组织薄弱，表现为长肢、眼部异常和主动脉增大1。
这两只猫的基因变异未完全禁用该基因，而是干扰了基因指令的处理同时保留部分正常功能1，使得它们得以存活至成年1。研究成果已发表在《Scientific Reports》期刊上1。康奈尔大学Jacquelyn Evans博士指出研究结果可为改进兽医诊断提供基础1。
Researchers at Cornell University have identified the first molecularly characterized cases of Marfan syndrome in domestic cats, discovering the condition in two brothers named Gary and Shaggy. 1 Each cat carries two altered copies of the FBN1 gene, with one inherited from each parent, resulting in weakened connective tissue that manifests as elongated limbs, eye abnormalities, and enlarged aortas. 1 The FBN1 gene encodes fibrillin-1, a protein critical for connective tissue health. 1
Unlike many genetic mutations that completely disable a gene, the variant identified in these cats did not fully inactivate FBN1; instead, it disrupted the processing of genetic instructions while preserving some normal function, allowing both animals to survive into adulthood. 1 In humans, Marfan syndrome affects approximately 1 in 4,000 people. 1 According to Jacquelyn Evans, a researcher at Cornell University, these results could serve as a foundation for improving veterinary diagnostic practices. 1 The research was published in Scientific Reports in 2026. 1
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