Deciphering intrafamilial phenotypic variability by exome sequencing in a Bardet-Biedl family.

ABSTRACT: Bardet-Biedl syndrome (BBS) is a model ciliopathy characterized by a wide range of clinical variability. The heterogeneity of this condition is reflected in the number of underlying gene defects and the epistatic interactions between the proteins encoded. BBS is generally inherited in an autosomal recessive trait. However, in some families, mutations across different loci interact to modulate the expressivity of the phenotype. In order to investigate the magnitude of epistasis in one BBS family with remarkable intrafamilial phenotypic variability, we designed an exome sequencing-based approach using SOLID 5500xl platform. This strategy allowed the reliable detection of the primary causal mutations in our family consisting of two novel compound heterozygous mutations in McKusick-Kaufman syn

SUBMITTER: Gonzalez-Del Pozo M 

PROVIDER: S-EPMC3960054 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature