دورية أكاديمية
A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia
| العنوان: | A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia |
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| المؤلفون: | Martins, M, Oliveira, AR, Martins, S, Vieira, JP, Perdigão, P, Fernandes, AR, de Almeida, LP, Palma, PJ, Sequeira, DB, Santos, JM, Duque, F, Oliveira, G, Cardoso, AL, Peça, J, Seabra, CM |
| بيانات النشر: | Multidisciplinary Digital Publishing Institute (MDPI) |
| سنة النشر: | 2023 |
| المجموعة: | Repositório do Centro Hospitalar de Lisboa Central EPE |
| مصطلحات موضوعية: | Child, Cilia / genetics, DNA-Binding Proteins / genetics, Epilepsy* / genetics, Intellectual Disability* / genetics, Neurodevelopmental Disorders, Seizures, HDE NEU PED |
| الوصف: | 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. ; info:eu-repo/semantics/publishedVersion |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | Int J Mol Sci . 2023 Aug 9;24(16):12603; http://hdl.handle.net/10400.17/4772Test |
| DOI: | 10.3390/ijms241612603 |
| الإتاحة: | https://doi.org/10.3390/ijms241612603Test http://hdl.handle.net/10400.17/4772Test |
| حقوق: | openAccess |
| رقم الانضمام: | edsbas.73DF8630 |
| قاعدة البيانات: | BASE |
| DOI: | 10.3390/ijms241612603 |
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