RT Journal Article
SR Electronic
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
FD BMJ Publishing Group Ltd
SP 132
OP 136
DO 10.1136/jmedgenet-2013-101785
VO 51
IS 2
A1 Sophie Scheidecker
A1 Christelle Etard
A1 Nathan W Pierce
A1 Véronique Geoffroy
A1 Elise Schaefer
A1 Jean Muller
A1 Kirsley Chennen
A1 Elisabeth Flori
A1 Valérie Pelletier
A1 Olivier Poch
A1 Vincent Marion
A1 Corinne Stoetzel
A1 Uwe Strähle
A1 Maxence V Nachury
A1 Hélène Dollfus
YR 2014
UL http://jmg.bmj.com/content/51/2/132.abstract
AB 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.