title: Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
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.
  
  
  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.
authors.affiliation: Laboratoire de Génétique Médicale, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Scheidecker
authors.forename: Christelle
authors.initials: C
authors.lastname: Etard
authors.forename: Nathan W
authors.initials: NW
authors.lastname: Pierce
authors.forename: Véronique
authors.initials: V
authors.lastname: Geoffroy
authors.forename: Elise
authors.initials: E
authors.lastname: Schaefer
authors.forename: Jean
authors.initials: J
authors.lastname: Muller
authors.forename: Kirsley
authors.initials: K
authors.lastname: Chennen
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Flori
authors.forename: Valérie
authors.initials: V
authors.lastname: Pelletier
authors.forename: Olivier
authors.initials: O
authors.lastname: Poch
authors.forename: Vincent
authors.initials: V
authors.lastname: Marion
authors.forename: Corinne
authors.initials: C
authors.lastname: Stoetzel
authors.forename: Uwe
authors.initials: U
authors.lastname: Strähle
authors.forename: Maxence V
authors.initials: MV
authors.lastname: Nachury
authors.forename: Hélène
authors.initials: H
authors.lastname: Dollfus
mesh_terms: D000818:Animals; D020788:Bardet-Biedl Syndrome / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D059472:Exome; D005347:Fibroblasts / Q000378:metabolism; D056726:Genetic Association Studies; D008040:Genetic Linkage; D057809:HEK293 Cells; D006801:Humans; D008297:Male; D008875:Middle Aged; D058977:Molecular Sequence Annotation; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D015027:Zebrafish
chemical_list: C000591362:BBIP1 protein, human; D002352:Carrier Proteins; D018389:Codon, Nonsense
keywords: Clinical Genetics; Diagnostics Tests; Genetic Screening/Counselling; Molecular Genetics; Ophthalmology
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