1. A Novel Genetic Syndrome

A Novel Genetic Syndrome

Christian Beetz 1 Najim Ameziane 1 Ameni Kdissa 1 Vasiliki Karageorgou 1 Dr. Peter Bauer, MD 1 Jehan Suleimann, PhD 2, 3 Vernon R Sutton 4 Ayman El-Hattab, MD 5
1 CENTOGENE AG 2 Tawam Hospital Al Ain 3 United Arab Emirates University Al Ain 4 Baylor College of Medicine, Houston, Texas 5 University of Sharjah, Sharjah, United Arab Emirates
December 17, 2019

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.