The FLNA gene encodes an actin-binding cytoskeletal protein termed filamin A. While the gain of function mutations of FLNA causes a few skeletal dysplasias, the loss of function mutations causes a diverse group of disorders, including periventricular nodular heterotopia, cardiovascular malformations, as well as interstitial lung disease. This evidence concerns the gene FLNA and periventricular nodular heterotopia.