Before revision: Causes This condition is caused by mutations in the ACO2 URL located on chromosome 22q13.2, these mutations are inherited in an autosomal recessive fashion, meaning that if both parents carry one copy of the disease-causing mutation, there is a 25% (1 in 4) chance their children will develop the disease.
After revision: Causes This condition is caused by mutations in the ACO2 gene, located on chromosome 22q13.2, these mutations are inherited in an autosomal recessive fashion, meaning that if both parents carry one copy of the disease-causing mutation, there is a 25% (1 in 4) chance their children will develop the disease.