A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria

Abstract

<p>Bilateral perisylvian polymicrogyria (BPP) is a structural malformation of the cerebral cortex that can be caused by several genetic abnormalities. The most common clinical manifestations of BPP include intellectual disability and epilepsy. Cytoplasmic FMRP-interacting protein 2 (CYFIP2) is a protein that interacts with the fragile X mental retardation protein (FMRP). <em>CYFIP2</em> variants can cause various brain structural abnormalities with the most common clinical manifestations of intellectual disability, epileptic encephalopathy and dysmorphic features. We present a girl with multiple disabilities and BPP caused by a heterozygous, novel, likely pathogenic variant (c.1651G>C: p.(Val551Leu) in the <em>CYFIP2</em> gene. Our case report broadens the spectrum of genetic diversity associated with BPP by incorporating <em>CYFIP2</em>.<br></p>