The Genetic Variants of Bardet-Biedl Syndrome

Common and Rare Genetic Mutations BBS is a genetically heterogeneous disorder caused by mutations in various genes, impacting the proper function of cilia, the tiny hair-like structures on cells involved in cellular signaling and other crucial processes. The most commonly associated genes with BBS include BBS1, BBS2, BBS4, BBS5, BBS6, BBS7, BBS9, BBS10, BBS12, and MKKS/BBS6. Mutations in these genes disrupt cilia function, affecting cellular signaling pathways vital for normal development and maintenance of tissues and organs. Cilia play essential roles in sensory perception, cellular communication, and tissue development. Dysfunctional cilia lead to impaired signaling, disrupting various physiological processes and resulting in the diverse symptoms observed in BBS. Less common mutations in other genes, such as ARL6, BBIP1, LZTFL1, SDCCAG8, and TRIM32, have also been associated with BBS. These mutations, while less frequent, contribute to the complexity and heterogeneity of the condition, presenting unique challenges in diagnosis and management due to their varying clinical manifesta