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Case Reports
. 2024 Apr;194(4):e63478.
doi: 10.1002/ajmg.a.63478. Epub 2023 Nov 17.

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

Tommi Salokivi  1 , Riitta Parkkola  2 , Yasmin Rajendran  3 , Thashi Bharadwaj  3 , Anushree Acharya  3 , Suzanne M Leal  3   4 , Irma Järvelä  5 , Maria Arvio  6   7 , Isabelle Schrauwen  3
Affiliations
Case Reports

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

Tommi Salokivi et al. Am J Med Genet A. 2024 Apr.

Abstract

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.

Keywords: CYFIP2; intellectual disability; polymicrogyria.

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Conflict of interest statement

CONFLICT OF INTEREST

All authors declare no conflicts of interest.

Figures

Figure 1.
Figure 1.
Photographs of the patient at the age of 8 years, brain magnetic resonance imaging findings and the result of Sanger sequencing.
See this image and copyright information in PMC

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