New Variant of Unknown Significance found in ERCC6 gene -Cerebro-oculo-facio-skeletal syndrome

INTRODUCTION/OBJECTIVES: Cerebro-oculo-facio-skel- etal syndrome (COFS) is a genetic disorder caused by a mutation of the DNA repair genes presenting with severe sensorineural involvement. The aim was to present a possible new pathogen mutation in the ERCC6 gene responsible for the clinical presentation of COFS