| Autor: |
Salokivi, Tommi, Parkkola, Riitta, Rajendran, Yasmin, Bharadwaj, Thashi, Acharya, Anushree, Leal, Suzanne M., Järvelä, Irma, Arvio, Maria, Schrauwen, Isabelle |
| Zdroj: |
American Journal of Medical Genetics. Part A; Apr2024, Vol. 194 Issue 4, p1-4, 4p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
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