2. Academic Validation
  3. Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

  • J Med Genet. 2014 Feb;51(2):132-6. doi: 10.1136/jmedgenet-2013-101785.
Sophie Scheidecker 1,  Christelle Etard,  Nathan W Pierce,  Véronique Geoffroy,  Elise Schaefer,  Jean Muller,  Kirsley Chennen,  Elisabeth Flori,  Valérie Pelletier,  Olivier Poch,  Vincent Marion,  Corinne Stoetzel,  Uwe Strähle,  Maxence V Nachury,  Hélène Dollfus
Affiliations

Affiliation

  • 1 Laboratoire de Génétique Médicale, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
PMID: 24026985 DOI: 10.1136/jmedgenet-2013-101785
Abstract

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>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.

Keywords

Clinical Genetics; Diagnostics Tests; Genetic Screening/Counselling; Molecular Genetics; Ophthalmology.

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