The LIS1/PAFAH1B1 gene is located on chromosome 17 and codes for the PAFAH1B1 protein that is very important for proper functioning of the brain cells (neurons). Changes which affect the protein’s ability to function (and therefore cause disease) are referred to as pathogenic variants or mutations. LIS1/PAFAH1B1 related disorders are caused by a variety of mutations in the LIS1/PAFAH1B1 gene. Most individuals with lissencephaly have a pathogenic variant that is unique and, usually, is not inherited from parents but appears as a de novo event. LIS1/PAFAH1B1 mutations are discovered through DNA-testing.
LIS1