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.
Authors: Samin Sajan; Deepali Shinde; Zöe Powis; Jaya Ganesh; Maria I Scarano; Jennifer Stone; Susan Winter; Sha Tang