Diseases associated with mutations in the filamin A gene (FLNA)

Abstract

The article presents literature review of the diseases associated with mutations in the FLNA gene encoding filamin A, which is a cytoskeleton protein with polymorphic functions. The mutations of this gene lead to the damage of the central nervous system (periventricular nodular heterotopy), respiratory organs (emphysema, interstitial lung disease), heart (congenital heart defects and minor heart abnormalities); the listed diseases can be diagnosed at different ages. The information presented in this review can be useful for clinical geneticists, specialists in rare (orphan) diseases, pediatricians, neonatologists, neurologists, epileptologists, pulmonologists, surgeons, cardiologists for timely diagnosis and improvement of medical care for patients requiring a multidisciplinary approach.