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 |
|---|---|
| المؤلفون: | Mariana Martins, Ana Rafaela Oliveira, Solange Martins, José Pedro Vieira, Pedro Perdigão, Ana Rita Fernandes, Luís Pereira de Almeida, Paulo Jorge Palma, Diana Bela Sequeira, João Miguel Marques Santos, Frederico Duque, Guiomar Oliveira, Ana Luísa Cardoso, João Peça, Catarina Morais Seabra |
| المصدر: | International Journal of Molecular Sciences, Vol 24, Iss 16, p 12603 (2023) |
| بيانات النشر: | MDPI AG, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Biology (General) LCC:Chemistry |
| مصطلحات موضوعية: | neurodevelopment, epilepsy, MBD5, neural cell models, primary cilia, Biology (General), QH301-705.5, Chemistry, QD1-999 |
| 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1422-0067 1661-6596 |
| Relation: | https://www.mdpi.com/1422-0067/24/16/12603; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067 |
| DOI: | 10.3390/ijms241612603 |
| URL الوصول: | https://doaj.org/article/de2f2c0e68f442f9a3ad757642828910 |
| رقم الأكسشن: | edsdoj.2f2c0e68f442f9a3ad757642828910 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 14220067 16616596 |
|---|---|
| DOI: | 10.3390/ijms241612603 |