Human Molecular Genetics, 2001, Vol. 10, No. 20 2293-2299
© 2001 Oxford University Press
Exploring the molecular basis of Bardet–Biedl syndrome
1Departments of Molecular and Human Genetics and 2Department of Pediatrics, 3The Texas Children’s Hospital, Baylor College of Medicine, Houston, Texas, USA and 4Molecular Medicine Unit, Institute of Child Health, University College London, London, UK
Few autosomal recessive disorders display the degree of pleiotropism and genetic heterogeneity found in Bardet–Biedl syndrome (BBS), a genetic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, cognitive impairment and gonadal and renal dysgenesis. This relatively rare condition has been reported frequently, but we have only recently begun to appreciate the genetic complexities that give rise to this constellation of clinical findings. During the last 12 months, the first three of at least six BBS genes have been identified, providing us for the first time with the ability to formulate hypotheses regarding the molecular etiology of the disorder. Here we review the key elements of the phenotype and discuss the significance of the discovery of the first three BBS genes on the effort to identify the cellular causes of this syndrome.
+ To whom correspondence should be addressed. Tel: +1 713 798 6873; Fax: +1 713 798 5073; Email: katsanis@bcm.tmc.edu
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