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

Session:
#673
Date:
Thursday, Apr 12, 2018 10:00am – 11:30am
Conference:
ACMG 2018
Authors:
Deepali Shinde, Jaya Ganesh, Jennifer Stone, Maria I Scarano, Samin Sajan, Sha Tang, Susan Winter, Zöe Powis
  • 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.
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