BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

• DOI: 10.1038/ng1771
• Publication Date: 2006-04-02T17:25:37Z
• Authors: Corinne Stoetzel; Virginie Laurier; Erica E Davis; Jean Muller; Suzanne Rix; José L Badano; Carmen C Leitch; Nabiha Salem; Eliane Chouery; Sandra Corbani; Nadine Jalk; Serge Vicaire; Pierre Sarda; Christian Hamel; Didier Lacombe; Muriel Holder; Sylvie Odent; Susan Holder; Alice S Brooks; Nursel H Elcioglu; Eduardo D Silva; Béatrice Rossillion; Sabine Sigaudy; Thomy J L de Ravel; Richard Alan Lewis; Bruno Leheup; Alain Verloes; Patrizia Amati-Bo...; André Mégarbané; Olivier Poch; Dominique Bonneau; Philip L Beales; Jean-Louis Mandel; Nicholas Katsanis; Hélène Dollfus
• Keywords: Bardet–Biedl Syndrome; Ciliopathy

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS genes have been cloned, they explain only 40-50% of the total mutational load. Here we report a major new BBS locus, BBS10, that encodes a previously unknown, rapidly evolving vertebrate-specific chaperonin-like protein. We found BBS10 to be mutated in about 20% of an unselected cohort of families of various ethnic origins, including some families with mutations in other BBS genes, consistent with oligogenic inheritance. In zebrafish, mild suppression of bbs10 exacerbated the phenotypes of other bbs morphants.