Common Causes Of Alagille Syndrome

De Novo Mutation

Another way Alagille syndrome is caused is by de novo mutation, which is a first-time mutation to a gene. In other words, this is a genetic mutation that has not been passed down from a parent. If Alagille syndrome is caused in this way, it is unlikely any other family members will also be afflicted. It is estimated fifty to seventy percent of cases are caused by de novo mutation and thirty to fifty percent are inherited. If a family member is known to have Alagille syndrome, prenatal testing is available to find out if the child has an increased risk of acquiring it. However, these tests cannot determine if or how badly the child is affected.