Table 1.

Summary of the main features related to chaperonin-like BBS genes.

Gene	Gene MIM number	Chromosome	Exons (Coding)	Pathogenic variants†	Mean contribution∧(%)	Protein (aa)	Phenotype MIM number	References
MKKS/BBS6	*604896	20p12.2	6 (4)	57	3–5	570	#605231 (BBS) #236700 (MKKS)	Katsanis et al., 2000 Slavotinek et al., 2000; Stone et al., 2000
BBS10	*610148	12q21.2	2 (2)	99	20	723	#615987 (BBS)	Stoetzel et al., 2006
BBS12	*610683	4q27	2 (1)	59	8–11	710	#615989 (BBS)	Stoetzel et al., 2007

MIM, Mendelian Inheritance in Man® (online database of human genes and genetic diseases; https://www.omim.org/); aa, amino acids; BBS, Bardet-Biedl syndrome; MKKS, McKusick-Kaufman syndrome.

^†The number of pathogenic variants corresponds to the data obtained from the last version of the Human Gene Mutation Database (HGMD professional 2017.1; released on March 2017).

^∧The mean contribution for each chaperonin-like BBS gene was established from the values reported elsewhere (Beales et al., 2001; Stoetzel et al., 2006; Billingsley et al., 2010; Muller et al., 2010; Deveault et al., 2011; Forsythe and Beales, 2013; Álvarez-Satta et al., 2014).