Progress of research on Bardet-Biedl syndrome / 中华医学遗传学杂志

ABSTRACT

Bardet-Biedl syndrome (BBS) is a rare genetic disease caused by ciliary structure abnormality or dysfunction. To date, more than 21 BBS genes (BBS1 - 21) have been reported to independently cause the disorder. Although the cellular functions of BBS proteins are not yet fully understood, model organisms have revealed that such proteins are involved in ciliary functions and intracellular transport. Among the 21 BBS genes, BBS7 is unique in that its product is a subunit of the BBSome and can directly interact with the BBS chaperonin complex. Previous studies using animal models showed that BBS7 mutation can cause similar phenotypes to human patients, and human disease caused by BBS7 variants are special and more complex. This article reviewed recent progresses on BBS7.