Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.

ABSTRACT: Whole exome sequencing (WES) is utilized in diagnostic odyssey cases to identify the underlying genetic cause associated with complex phenotypes. Recent publications suggest that WES reveals the genetic cause in ~25% of these cases and is most successful when applied to children with neurological disease. The residual 75% of cases remain genetically elusive until more information becomes available in the literature or functional studies are pursued. WES performed on three families with presumed ciliopathy diagnoses, including orofaciodigital (OFD) syndrome, fetal encephalocele, or Joubert-related disorder, identified compound heterozygous variants in C2CD3. Biallelic variants in C2CD3 have previously been associated with ciliopathies, including OFD syndrome type 14 (OFD14; MIM: 615948). As

SUBMITTER: Boczek NJ 

PROVIDER: S-EPMC6244354 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature