Matthews, E; Whittle, EF; Khan, F; McEntagart, M; Carroll, CJ
(2024)
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene.
J Hum Genet.
ISSN 1435-232X
https://doi.org/10.1038/s10038-024-01226-9
SGUL Authors: Matthews, Emma Louise
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Abstract
Only five children with pathogenic PMPCB gene variants have been described and all carried missense variants. Clinical features included a Leigh-like syndrome of developmental regression, basal ganglia lesions and ataxia with or without dystonia and epilepsy. Three of the five died in childhood and none was older than age six when described. We report the first splice site variant in the PMPCB gene in a 39-year old individual who experienced developmental regression and ataxia following otitis media in childhood. A minigene assay confirms this variant results in aberrant splicing and skipping of exon 12.
| Item Type: | Article | |||||||||
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| Additional Information: | Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. © The Author(s) 2024 | |||||||||
| Keywords: | 0604 Genetics, 1103 Clinical Sciences, Genetics & Heredity | |||||||||
| SGUL Research Institute / Research Centre: | Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) | |||||||||
| Journal or Publication Title: | J Hum Genet | |||||||||
| ISSN: | 1435-232X | |||||||||
| Language: | eng | |||||||||
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| Publisher License: | Creative Commons: Attribution 4.0 | |||||||||
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| PubMed ID: | 38374165 | |||||||||
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| URI: | https://openaccess.sgul.ac.uk/id/eprint/116257 | |||||||||
| Publisher's version: | https://doi.org/10.1038/s10038-024-01226-9 |
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