Molecular Characteristics for Families

CCDC186 associated developmental and epileptic encephalopathy (DEE) is inherited in an autosomal recessive fashion. Autosomal recessive inheritance is a way a genetic trait or condition can be passed down from parent to child. A genetic condition can occur when the child inherits one copy of a mutated (changed) gene from each parent. The parents of a child with an autosomal recessive condition usually do not have the condition. Unaffected parents are called carriers because they each carry one copy of the mutated gene and can pass it to their children (adapted from the National Cancer Institute). To date, only genetic variants likely disrupting the gene are described which indicates that the condition occurs when no functional CCDC186 protein is being produced. Currently, there are no specific genetic or non-genetic tests for CCDC186 associated developmental and epileptic encephalopathy. Therefore, comprehensive methods such as whole exome sequencing (WES) or preferably whole genome sequencing (WGS) should be employed.