Parents

A rare recessive mutation of the WWOX gene causes a deficiency of the WWOX protein which has a severe impact on brain development. The resultant syndromes are known as SCAR12 (Spinocerebellar Ataxia-12) and WOREE Syndrome (WWOX-related Epileptic Encephalopathy), also known as EIEE28 (Early Infantile Epileptic Encephalopathy-28). This deficiency is a result of autosomal recessive mutations affecting the WWOX gene. Each gene has two alleles, one come from the mother and the other from the father. Recessive inheritance means that both alleles must be abnormal to cause disease. Carriers of WWOX mutations are not affected with the condition. However, they can pass the WWOX gene mutation to their children.