Ciliopathy: Bardet-Biedl syndrome

Bardet-Biedl syndrome (BBS) is a rare genetic disorder with severe multiorgan impairment. At present, there are already 21 known BBS genes (BBS1–BBS20 and NPHP1). Strikingly, all BBS genes participate in cilia functioning, being a part of BBSome (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9, BBS17, and BBS18), chaperonin complex (BBS6, BBS10 and BBS12), basal body (BBS13, BBS14, BBS15, and BBS16) or having some related biological function (BBS3, BBS11, BBS19, BBS20, and NPHP1). These genes apparently lack redundancy, and the disruption of any of them lead to cilia impairment. Patients who are affected by the disease and carry a homozygous mutation in one of the BBS genes often carry an additional heterozygous mutation in another BBS gene. These observations were defined as a ‘triallelic inheritance’ (PMID:27385962).

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