Fbn2, encoding fibrillin-2, is associated with elastin fibres [2,4]. Its products play a role in the formation of the extracellular matrix, with implications for connective tissue integrity. The extracellular matrix organization pathway is one of the associated pathways [5].

Pathogenic variants in Fbn2 cause congenital contractural arachnodactyly (CCA), an autosomal dominant connective tissue disorder. CCA is characterized by features like arachnodactyly, camptodactyly, contracture of major joints, scoliosis, pectus deformities, and crumpled ears [1,3,6]. Some Fbn2 variants may also lead to severe cardiovascular or skeletal manifestations [1,3,5].

In bladder cancer, Fbn2 expression is upregulated and can be an independent prognostic factor, influencing the tumour microenvironment [2]. In hypoxic conditions, Fbn2 expression is reduced, inhibiting elastic fiber synthesis [4]. Also, Fbn2 promotes osteoblast proliferation, mineralization, and differentiation to accelerate fracture healing [7].

In conclusion, Fbn2 is crucial for connective tissue-related biological processes. Studies on Fbn2-related disorders such as CCA, and its role in bladder cancer, hypoxia-related elastic fiber impairment, and fracture healing, help us understand its biological functions. These insights may contribute to better management and treatment strategies for these conditions.