title: [Update on Bardet-Biedl syndrome].
abstract: Until recently, Bardet-Biedl syndrome was considered as a classic autosomal recessive condition. The disorder is defined by the association of the following clinical features: retinitis pigmentosa, polydactyly, obesity, hypogonadism, and possible mental retardation. This syndrome leads to multiple handicaps (visual impairment, complications of obesity, kidney failure, endocrine dysfunction). This condition, apparently clearly defined from a clinical point of view, appears to be genetically heterogenous. To date, six different genes have been identified: BBS1, BBS2, BBS4, BBS6, BBS7 and BBS8. Interestingly, this condition has recently been linked to a failure of cellular ciliogenesis. Moreover, this disorder is characterized by an additional degree of complexity, as it is the first example of triallelic inheritance described in human beings. However, this new finding appears to be less frequent than expected in this syndrome.
authors.affiliation: Fédération de Génétique, Service de Génétique Médicale, Hôpital de Hautepierre, avenue Mollière, 67098 Strasbourg cedex, France. Helene.Dollfus@chru-strasbourg.fr
authors.forename: H
authors.initials: H
authors.lastname: Dollfus
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
authors.forename: M
authors.initials: M
authors.lastname: Cossée
authors.forename: F
authors.initials: F
authors.lastname: Perrin-Schmitt
authors.forename: C
authors.initials: C
authors.lastname: Brandt
authors.forename: J
authors.initials: J
authors.lastname: Flament
authors.forename: J-L
authors.initials: JL
authors.lastname: Mandel
mesh_terms: D020788:Bardet-Biedl Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans