High-risk pregnancy in pregnant women with FLNA gene mutation ; Visokorizična trudnoća u trudnice sa mutacijom FLNA gena

FLNA is an X-linked gene which encodes Filamin A, an actin-binding protein that plays a key role in cytoskeletal structural development, cell migration, vascular development and stability. FLNA mutations are the cause of X-linked dominant periventricular heterotopia, a neuronal migration disorder, aortic aneurysms, Patent Ductus Arteriosus, and Ehlers-Danlos syndrome-like features. ; FLNA je X-vezani gen koji kodira Filamin A, protein koji veže aktin i ima ključnu ulogu u strukturnom razvoju citoskeleta, migraciji stanica te vaskularnom razvoju i stabilnosti. FLNA mutacije uzrokuju bolesti poput X-vezane dominantne periventrikularne heterotopije, poremećaja migracije neurona, aneurizme aorte, perzistentnog ductusa arteriosusa i obilježja sličnih Ehlers-Danlosovu sindromu poput pretjerane pokretljivosti zglobova i pretjerane rastezljivosti kože.