IPO8 and thoracic aortic aneurysm: Similarly, biallelic loss-of-function variants in IPO8 underlie a syndromic form of thoracic aortic aneurysm characterized by motor developmental delay, connective-tissue manifestations, and craniofacial dysmorphism (e.g., frontal bossing, hypertelorism, retrognathia, and ptosis) [17].