BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
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.
Stoetzel
Corinne
C
EA Laboratoire de Génétique Médicale, Faculté de Médecine, Université Louis Pasteur, 11 rue Humann, 67000, Strasbourg, France.
Laurier
Virginie
V
EA Laboratoire de Génétique Médicale, Faculté de Médecine, Université Louis Pasteur, 11 rue Humann, 67000, Strasbourg, France.
Faivre
Laurence
L
Service de Génétique, CHU de Dijon, Dijon, France.
Mégarbané
André
A
Laboratoire de Génétique, Université Saint Joseph, Beirut, Lebanon.
Perrin-Schmitt
Fabienne
F
EA Laboratoire de Génétique Médicale, Faculté de Médecine, Université Louis Pasteur, 11 rue Humann, 67000, Strasbourg, France.
Verloes
Alain
A
Département de Génétique, Hôpital Robert Debré, Paris, France.
Bonneau
Dominique
D
Service de Génétique, CHU Angers, Angers, France.
Mandel
Jean-Louis
JL
Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP/Collège de France, Illkirch, C.U. de Strasbourg, France.
Cossee
Mireille
M
Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Dollfus
Hélène
H
EA Laboratoire de Génétique Médicale, Faculté de Médecine, Université Louis Pasteur, 11 rue Humann, 67000, Strasbourg, France. helene.dollfus@medecine.u-strasbg.fr.
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*
D003598:Cytoskeletal Proteins; D011506:Proteins; C478138:TTC8 protein, human