Exome & General Genetics

Session # 673

Biallelic gene disrupting variants in PKDCC cause a skeletal disorder characterized by rhizomelic shortening of extremities and distinctive facial features

  • Via trio-based diagnostic exome sequencing (DES) we have identified a novel human disease gene, PKDCC, that causes skeletal abnormalities in humans due to biallelic loss of function variants.
  • The phenotype of the two human patients resembled that of knockout mice, thereby providing support for the role of this gene in human skeletal development
  • DES is a useful tool for identifying novel human disease genes.

Search Results

Start your search...