A novel APC mutation defines a second locus for Cenani-Lenz syndrome
Adenomatous Polyposis Coli Protein
Genetic Association Studies
Quantitative Trait Loci
In a pattern similar to how LRP4 mutations are predicted to negate the protein's antagonistic effect on Wnt/β-catenin signalling, we propose that reduction of APC may increase the availability of β-catenin by virtue of impaired degradation, leading to a similar phenotypic outcome. This is the first time APC is linked to a human phenotype distinct from its established role in oncology.