TY - JOUR T1 - Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit <em>BBIP1</em> (<em>BBS18</em>) JF - Journal of Medical Genetics JO - J Med Genet SP - 132 LP - 136 DO - 10.1136/jmedgenet-2013-101785 VL - 51 IS - 2 AU - Sophie Scheidecker AU - Christelle Etard AU - Nathan W Pierce AU - Véronique Geoffroy AU - Elise Schaefer AU - Jean Muller AU - Kirsley Chennen AU - Elisabeth Flori AU - Valérie Pelletier AU - Olivier Poch AU - Vincent Marion AU - Corinne Stoetzel AU - Uwe Strähle AU - Maxence V Nachury AU - Hélène Dollfus Y1 - 2014/02/01 UR - http://jmg.bmj.com/content/51/2/132.abstract N2 - Background Bardet–Biedl syndrome (BBS) is a recessive and genetically heterogeneous ciliopathy characterised by retinitis pigmentosa, obesity, kidney dysfunction, postaxial polydactyly, behavioural dysfunction and hypogonadism. 7 of the 17 BBS gene products identified to date assemble together with the protein BBIP1/BBIP10 into the BBSome, a protein complex that ferries signalling receptors to and from cilia. Methods and results Exome sequencing performed on a sporadic BBS case revealed for the first time a homozygous stop mutation (NM_001195306: c.173T&gt;G, p.Leu58*) in the BBIP1 gene. This mutation is pathogenic since no BBIP1 protein could be detected in fibroblasts from the patient, and BBIP1[Leu58*] is unable to associate with the BBSome subunit BBS4. Conclusions These findings identify BBIP1 as the 18th BBS gene (BBS18) and suggest that BBSome assembly may represent a unifying pathomechanism for BBS. ER -