This condition is caused by an error in the SOX4 gene, which is located on chromosome 6. Known mutations arose de novo, which means that they are absent from the parents but present in all cells of the child. When a SOX4 mutation is not found in the parents, brothers or sisters without any signs of the disorder do not need to be tested. However, it is recommended that parents of an affected child undergo consultation with a clinical geneticist and/or genetic counselor.
SOX4