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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 Location

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3966300/
No data is associated with this publication.
Creative Commons 'BY-NC-ND' version 4.0 license
Abstract

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.Exome 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.These 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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