title: BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
abstract: BBS8 is one of the eight genes identified to date for Bardet-Biedl syndrome (BBS)-an autosomal recessive condition associated with retinitis pigmentosa, obesity, polydactyly, cognitive impairment and kidney failure. The identification of BBS8 gave the key to the pathogenesis of the condition as a primary ciliary disorder. To date, only three families mutated in the BBS8 gene have been reported. Here, we report on three additional families with BBS8 mutations from a series of 128 BBS families. Two of the three families have homozygous mutations and one has a heterozygous mutation. Mutations in BBS8 probably account for only a minority of BBS families (2%), underlining the difficulty of genotyping heterogeneous conditions.
authors.affiliation: EA Laboratoire de Génétique Médicale, Faculté de Médecine, Université Louis Pasteur, 11 rue Humann, 67000, Strasbourg, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Stoetzel
authors.affiliation: EA Laboratoire de Génétique Médicale, Faculté de Médecine, Université Louis Pasteur, 11 rue Humann, 67000, Strasbourg, France.
authors.forename: Virginie
authors.initials: V
authors.lastname: Laurier
authors.affiliation: Service de Génétique, CHU de Dijon, Dijon, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.affiliation: Laboratoire de Génétique, Université Saint Joseph, Beirut, Lebanon.
authors.forename: André
authors.initials: A
authors.lastname: Mégarbané
authors.affiliation: EA Laboratoire de Génétique Médicale, Faculté de Médecine, Université Louis Pasteur, 11 rue Humann, 67000, Strasbourg, France.
authors.forename: Fabienne
authors.initials: F
authors.lastname: Perrin-Schmitt
authors.affiliation: Département de Génétique, Hôpital Robert Debré, Paris, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Verloes
authors.affiliation: Service de Génétique, CHU Angers, Angers, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonneau
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP/Collège de France, Illkirch, C.U. de Strasbourg, France.
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Mandel
authors.affiliation: Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: Mireille
authors.initials: M
authors.lastname: Cossee
authors.affiliation: EA Laboratoire de Génétique Médicale, Faculté de Médecine, Université Louis Pasteur, 11 rue Humann, 67000, Strasbourg, France. helene.dollfus@medecine.u-strasbg.fr.
authors.forename: Hélène
authors.initials: H
authors.lastname: Dollfus
mesh_terms: D020788:Bardet-Biedl Syndrome / Q000235:genetics*; D015331:Cohort Studies; D003598:Cytoskeletal Proteins; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*
chemical_list: D003598:Cytoskeletal Proteins; D011506:Proteins; C478138:TTC8 protein, human