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.
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Acknowledgements
We wish to acknowledge the financial support of: Ministère de la Recherche (PHRC national 2002), RETINA France, LION’s club du Kochersberg and la Fédération des Maladies Orphelines, the constant technical help of the IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch-Graffenstaden), INSERM, CNRS and the Université Louis Pasteur de Strasbourg.
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C. Stoetzel and V. Laurier contributed equally to this work
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Stoetzel, C., Laurier, V., Faivre, L. et al. BBS8 is rarely mutated in a cohort of 128 Bardet–Biedl syndrome families. J Hum Genet 51, 81–84 (2006). https://doi.org/10.1007/s10038-005-0320-2
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DOI: https://doi.org/10.1007/s10038-005-0320-2
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