January 13, 2004Human Molecular Genetics229 citationsOpen Access
View Full PaperThe oligogenic properties of Bardet-Biedl syndrome
Key Points
- To examine the oligogenic properties and genetic interactions contributing to Bardet-Biedl syndrome.
- Reviewed recent advances in genetic and cellular aspects of Bardet-Biedl syndrome.
- Discussed interactions of mutations across different loci within families.
- Identified that multiple mutations at different BBS loci can influence the expression and variation of symptoms.
- Discussed implications for understanding the genetic basis of phenotypic variability.
Abstract
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.