Abstract:

Distal arthrogryposis represents a group of congenital malformations with genetic factors, and distal arthrogryposis type 9 is attributed to mutations in the FBN2 gene. Differing from other subtypes where muscular tissues are affected,FBN2 gene mutation primarily impacts the embryonic development of connective tissues, giving rise to distinctive clinical phenotypes. To date, the specific pathogenic mechanisms of this condition remain elusive. In this paper, the recent research progress of distal arthrogryposis type 9 was reviewed, aiming to enhance our understanding of the disease. With the advancement and widespread use of sequencing technologies, the potential discovery of additional mutation loci and patient cohorts holds promise for elucidating genotype-phenotype correlations. Furthermore, there is a pressing need to promote the development of appropriate cellular and animal models to further elucidate its pathogenic mechanisms, offering novel avenues for disease diagnosis and therapeutic interventions.

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