What genes are related to X-linked lissencephaly?
X-linked lissencephaly is caused by a mutation in either the DCX gene or the ARX gene. Mutations in the DCX gene cause isolated lissencephaly, which typically does not involve any other parts of the body. Mutations in the ARX gene can cause X-linked lissencephaly with ambiguous genitalia and other associated health issues. Both genes provide instructions for producing proteins that play a role in the development of the brain. The DCX protein, doublecortin, plays a role in the migration of nerve cells (neurons) to their proper location in the developing brain. The ARX protein is involved in the regulation of other genes that contribute to brain development. The ARX protein is also found in the pancreas and testes. X-linked lissencephaly is seen primarily in males. Most females with a DCX mutation have a milder brain disorder called subcortical band heterotopia, or doublecortex. Females with an ARX mutation usually have some degree of intellectual disability, epilepsy, and agenesis of th
