Sanger sequencing ofpositional candidate genes in relation to the aetiology of the disease, particularly hydrocephalus and epileptic encephalopathy (CCDC33, BBS4
, and CSNK1G1 genes), found no pathogenic mutation compatible with autosomal recessive inheritance.
The BBSome is a stable protein complex involved in the biogenesis of the PC, which is formed by seven highly conserved BBS proteins (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9) and by the protein BBSome-interacting protein of 10 KDa (BBIP10) [27-29].
Recently, Gerdes et al., using the Bbs4 mutant mice, evaluated the role of the PC in pancreatic islet function and glucose homeostasis.
Eleven genes are known to be associated with this syndrome: BBS1, BBS2, ARL6/BBS3, BBS4
, BBS5, MKKS/BBS6, BBS7, TTC8/BBS8, B1/BBS9, BBS10, and TRIM32/ BBS11.4.