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Human Molecular Genetics Advance Access originally published online on February 19, 2004
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Human Molecular Genetics, 2004, Vol. 13, Review Issue 1 R65-R71
DOI: 10.1093/hmg/ddh092

The oligogenic properties of Bardet–Biedl syndrome

Nicholas Katsanis*

Institute of Genetic Medicine and Wilmer Eye Institute, Johns Hopkins University, 600 North Wolfe Street, Baltimore, MD 21287, USA

Bardet–Biedl syndrome (BBS: OMIM 209900) is a rare developmental disorder that exhibits significant clinical and genetic heterogeneity. Although modeled initially as a purely recessive trait, recent data have unmasked an oligogenic mode of disease transmission, in which mutations at different BBS loci can interact genetically in some families to cause and/or modify the phenotype. Here, I will review and discuss recent advances in elucidating both genetic and cellular aspects of this phenotype and their potential application in understanding the genetic basis of phenotypic variability and oligogenic inheritance.

* To whom correspondence should be addressed: Tel: +1 4105026660; Fax: +1 4105020697; Email: katsanis{at}jhmi.edu


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