Publication: Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures
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Zweier, M., Begemann, A., McWalter, K., Cho, M. T., Abela, L., et al, Deciphering Developmental Disorders (DDD) Study, Steindl, K., & Rauch, A. (2019). Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. European Journal of Human Genetics, 27(5), 747–759. https://doi.org/10.1038/s41431-018-0331-z
Abstract
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Abstract
CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual disability and autism because of its important role linking FMRP-dependent transcription regulation and actin polymerization via the WAVE regulatory complex (WRC). Recently, de novo variants affecting the amino acid p.Arg87 of CYFIP2 were reported in four individuals with epileptic encephalopathy. We here report 12 independent patients harboring a variety of de novo variants in CY
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- McWalter, Kirsty
- Cho, Megan T
- Abela, Lucia
- Rauch, Anita
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Citations
Zweier, M., Begemann, A., McWalter, K., Cho, M. T., Abela, L., et al, Deciphering Developmental Disorders (DDD) Study, Steindl, K., & Rauch, A. (2019). Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures. European Journal of Human Genetics, 27(5), 747–759. https://doi.org/10.1038/s41431-018-0331-z
