A <i>de novo</i> X;8 translocation creates a <i>PTK2</i>-<i>THOC2</i> gene fusion with <i>THOC2</i> expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

Abstract

We suggest that THOC2 can play specific roles in neuronal cells and, possibly in combination with PTK2 reduction, may affect normal neural network formation, leading to cognitive impairment and cerebellar congenital hypoplasia.