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Title: | A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia | Authors: | Martins, Mariana Oliveira, Ana Rafaela Martins, Solange Vieira, José Pedro Perdigão, Pedro Fernandes, Ana Rita Almeida, Luís Pereira de Palma, Paulo Jorge Sequeira, Diana Bela Santos, João Miguel Marques Duque, Frederico Oliveira, Guiomar Cardoso, Ana Luísa Peça, João Seabra, Catarina Morais |
Keywords: | neurodevelopment; epilepsy; MBD5; neural cell models; primary cilia | Issue Date: | 9-Aug-2023 | Publisher: | MDPI | Project: | EXPL/MED-OUT/1470/2021 EXPL/MED-NEU/0936/2021 Marie Skłodowska-Curie |
Serial title, monograph or event: | International Journal of Molecular Sciences | Volume: | 24 | Issue: | 16 | Abstract: | Disruptions in the MBD5 gene have been linked with an array of clinical features such as global developmental delay, intellectual disability, autistic-like symptoms, and seizures, through unclear mechanisms. MBD5 haploinsufficiency has been associated with the disruption of primary cilium-related processes during early cortical development, and this has been reported in many neurodevelopmental disorders. In this study, we describe the clinical history of a 12-year-old child harboring a novel MBD5 rare variant and presenting psychomotor delay and seizures. To investigate the impact of MBD5 haploinsufficiency on neural primary cilia, we established a novel patient-derived cell line and used CRISPR-Cas9 technology to create an isogenic control. The patient-derived neural progenitor cells revealed a decrease in the length of primary cilia and in the total number of ciliated cells. This study paves the way to understanding the impact of MBD5 haploinsufficiency in brain development through its potential impact on neural primary cilia. | URI: | https://hdl.handle.net/10316/112195 | ISSN: | 1422-0067 | DOI: | 10.3390/ijms241612603 | Rights: | openAccess |
Appears in Collections: | FCTUC Ciências da Vida - Artigos em Revistas Internacionais FMUC Medicina - Artigos em Revistas Internacionais IIIUC - Artigos em Revistas Internacionais FFUC- Artigos em Revistas Internacionais I&D CNC - Artigos em Revistas Internacionais |
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