Bardet-Biedl syndrome (BBS) is a ciliary disease caused by genetic factors that can affect multiple system functions in humans. This syndrome is named after Georges Bardet and Arthur Biedl. BBS as a pleiotropic disease, its patients have many different clinical manifestations. The main features of the disease are mild to severe obesity, occurring at a frequency of 72-96%. Other symptoms such as retinitis pigmentosa, male hypogenitalism, complex female genitourinary malformations, hypogonadism and renal failure have also been reported. There is also evidence that cilia damage can lead to gliosis and neuroinflammation. Although BBS is an uncommon disease, its diagnosis is complicated by the fact that many of its clinical features (obesity, diabetes, high blood pressure, etc.) occur in many diseases. Therefore, effective molecular detection is the primary choice for studying the occurrence of BBS.
Mutations in more than 20 different genes can independently produce BBS. Among them, proteins encoded by BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP1/BBS18 interact to form a protein complex termed BBSome. Another BBS protein complex including BBS6, BBS10 and BBS12 acts as a BBSome chaperone. BBSome protein is an important component of Intraflagellar transport (IFT) in olfactory sensory neurons (OSNs). IFT is evolutionarily conserved and consists of IFT-A and IFT-B subcomplexes. It is a protein transport system that is essential for the formation and maintenance of cilia. C8ORF37 is a ciliary cytoplasmic protein that is not significantly homologous to any other human protein. C8ORF37 does not belong to any known family of proteins and its function has not been elucidated clearly. C8ORF37 is ubiquitously expressed and colocalized with tubulin in human retinal pigment epithelial cells and is responsible for the attachment of cilia to the base of the photoreceptor, which supports the close association of the C8ORF37 mutation with Bardet-Biedl syndrome. In addition, a translocation mutation in the scaffold protein HEF1 activates Aurora A kinase (AurA), which activates histone deacetylase 6 (HDAC6) to destabilize the microtubule axis and cause cilia to disintegrate.
Based on the latest research report, we have selected a variety of representative genes that are highly correlated with BBS. You can select the genes you want to detect in the panel library or customize your exclusive panel. We offer specialized targeted sequencing technologies to detect low-frequency genetic variants.
For more information about the Custom Bardet-Biedl Syndrome Panel or need other amplification requirements, please contact us.