A Novel Genetic Syndrome
VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features
Standard genome-scale diagnostics fail to identify a pathogenic variant in up to 50% of patients. CENTOGENE’s free-of-charge ‘research analysis’ of such cases frequently provides strong evidence for yet undescribed gene-disease associations. As a recent example, bi-allelic loss-of-function variants in the VPS26C gene were identified as the likely cause for a novel neuro-skeletal syndrome. These findings were published in Clinical Genetics.