A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.
- Resource Type
- Report
- Authors
- Salokivi T; Department of Disability Services, The Wellbeing Services County of Southwest Finland, Paimio, Finland.; Parkkola R; Department of Radiology, University of Turku and Turku University Hospital, Turku, Finland.; Rajendran Y; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.; Bharadwaj T; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.; Acharya A; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.; Leal SM; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.; Taub Institute, Columbia University Medical Center, New York, New York, USA.; Järvelä I; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.; Arvio M; Department of Neurology, Päijät-Häme Joint Municipal Authority, Lahti, Finland.; General Practice, Turku University and Turku University Central Hospital, Turku, Finland.; Schrauwen I; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.
- Source
- Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
- Subject
- Language
- English
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.
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