periventricular nodular heterotopia type 4

periventricular nodular heterotopia type 4

An X-linked dominant developmental disorder (OMIM:300537) characterised by the presence of nodular brain heterotopia, joint hypermobility and development of aortic dilation in early adulthood.

Molecular pathology
Defects in FLNA, which encodes filamin A, an actin-binding protein, cause periventricular nodular heterotopia type 4. A less common, autosomal recessive form of periventricular nodular heterotopia is caused by mutations in ARFGEF2, which encodes ADP-ribosylation factor guanine nucleotide-exchange factor, a protein involved in membrane trafficking