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

Tommi Salokivi, Riitta Parkkola, Yasmin Rajendran, Thashi Bharadwaj, Anushree Acharya, Suzanne M. Leal, Irma Järvelä, Maria Arvio, Isabelle Schrauwen

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Sammanfattning

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). CYFIP2 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 CYFIP2 gene. Our case report broadens the spectrum of genetic diversity associated with BPP by incorporating CYFIP2.

Originalspråkengelska
Artikelnummere63478
TidskriftAmerican Journal of Medical Genetics, Part A
Volym194
Nummer4
Antal sidor4
ISSN1552-4825
DOI
StatusPublicerad - 2024
MoE-publikationstypA1 Tidskriftsartikel-refererad

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  • 1184 Genetik, utvecklingsbiologi, fysiologi

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