Ignatius, E;
Puosi, R;
Palomäki, M;
Forsbom, N;
Pohjanpelto, M;
Alitalo, T;
Anttonen, A-K;
Avela, K;
Haataja, L;
Carroll, CJ;
et al.
Ignatius, E; Puosi, R; Palomäki, M; Forsbom, N; Pohjanpelto, M; Alitalo, T; Anttonen, A-K; Avela, K; Haataja, L; Carroll, CJ; Lönnqvist, T; Isohanni, P
(2022)
Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype.
Eur J Paediatr Neurol, 37.
pp. 1-7.
ISSN 1532-2130
https://doi.org/10.1016/j.ejpn.2021.12.012
SGUL Authors: Carroll, Christopher John
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Abstract
Deleterious variants in the transcription factor early B-cell factor 3 (EBF3) are known to cause a neurodevelopmental disorder (EBF3-NDD). We report eleven individuals with EBF3 variants, including an individual with a duplication/triplication mosaicism of a region encompassing EBF3 and a phenotype consistent with EBF3-NDD, which may reflect the importance of EBF3 gene-dosage for neurodevelopment. The phenotype of individuals in this cohort was quite mild compared to the core phenotype of previously described individuals. Although ataxia tended to wane with age, we show that cognitive difficulties may increase, and we recommend that individuals with EBF3-NDD have systematic neuropsychological follow-up.
| Item Type: | Article | ||||||||
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| Additional Information: | © 2021 The Authors. Published by Elsevier Ltd on behalf of European Paediatric Neurology Society. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). | ||||||||
| Keywords: | 10q26, Ataxia, EBF3, EBF3-NDD, HADDS, Phenotype, 1109 Neurosciences, 1114 Paediatrics and Reproductive Medicine, 1103 Clinical Sciences, Neurology & Neurosurgery | ||||||||
| SGUL Research Institute / Research Centre: | Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) | ||||||||
| Journal or Publication Title: | Eur J Paediatr Neurol | ||||||||
| ISSN: | 1532-2130 | ||||||||
| Language: | eng | ||||||||
| Dates: |
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| Publisher License: | Creative Commons: Attribution 4.0 | ||||||||
| PubMed ID: | 34999443 | ||||||||
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| URI: | https://openaccess.sgul.ac.uk/id/eprint/114054 | ||||||||
| Publisher's version: | https://doi.org/10.1016/j.ejpn.2021.12.012 |
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