Fbn2-KO Mouse

Fbn2, encoding fibrillin-2, is associated with elastin fibres [2]. It plays a role in the extracellular matrix organization pathway, which is important for the normal development and function of connective tissues [5].

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

In addition, Fbn2 is involved in regulating elastin deposition in adult skin models, as hypoxia can inhibit elastic fiber synthesis by reducing fibrillin-2 expression [4]. In fracture research, Fbn2 was identified as a hub gene, promoting the proliferation, mineralization, and differentiation of osteoblasts to accelerate fracture healing [7].

In conclusion, Fbn2 is crucial for connective tissue-related biological processes. Its study through analysis of pathogenic variants in CCA patients helps understand its role in connective tissue disorders. Also, its function in elastin deposition and fracture healing provides insights into skin and bone-related physiological and pathological conditions.