Professionals

Bi-allelic loss-of-function mutations in IPO8cause a very rare aortopathy syndrome that closely resembles Loeys-Dietz syndrome (LDS). This childhood-onset connective tissue disorder is characterized by cardiovascular, musculoskeletal, craniofacial and, in an important fraction of patients, immunological manifestations. Epidemiological studies are currently lacking, hampering reliable estimation of the disease prevalence and incidence. Roughly 30 patients have been described so far and, in the affected families, heterozygous variant carriers appear to be fully asymptomatic.