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Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
- Author(s): Scheidecker, Sophie;
- Etard, Christelle;
- Pierce, Nathan W;
- Geoffroy, Véronique;
- Schaefer, Elise;
- Muller, Jean;
- Chennen, Kirsley;
- Flori, Elisabeth;
- Pelletier, Valérie;
- Poch, Olivier;
- Marion, Vincent;
- Stoetzel, Corinne;
- Strähle, Uwe;
- Nachury, Maxence V;
- Dollfus, Hélène
- et al.
Published Web Locationhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3966300/
No data is associated with this publication.
BackgroundBardet-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 resultsExome sequencing performed on a sporadic BBS case revealed for the first time a homozygous stop mutation (NM_001195306: c.173T>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.
ConclusionsThese findings identify BBIP1 as the 18th BBS gene (BBS18) and suggest that BBSome assembly may represent a unifying pathomechanism for BBS.
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