Copy number variation of LINGO1 in familial dystonic tremor

Alakbarzade, Vafa, Iype, Thomas, Chioza, Barry A., Singh, Royana, Harlalka, Gaurav V., Hardy, Holly, Sreekantan-Nair, Ajith, Proukakis, Christos, Peall, Kathryn ORCID: https://orcid.org/0000-0003-4749-4944, Clark, Lorraine N., Caswell, Richard, Allen, Hana, Wakeling, Matthew, Chilton, John K., Baple, Emma L., Louis, Elan D., Warner, Thomas T. and Crosby, Andrew H. 2019. Copy number variation of LINGO1 in familial dystonic tremor. Neurology Genetics 5 (1) , e307. 10.1212/NXG.0000000000000307

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Abstract

Objective To elucidate the genetic cause of a large 5 generation South Indian family with multiple individuals with predominantly an upper limb postural tremor and posturing in keeping with another form of tremor, namely, dystonic tremor. Methods Whole-genome single nucleotide polymorphism (SNP) microarray analysis was undertaken to look for copy number variants in the affected individuals. Results Whole-genome SNP microarray studies identified a tandem duplicated genomic segment of chromosome 15q24 present in all affected family members. Whole-genome sequencing demonstrated that it comprised a ∼550-kb tandem duplication encompassing the entire LINGO1 gene. Conclusions The identification of a genomic duplication as the likely molecular cause of this condition, resulting in an additional LINGO1 gene copy in affected cases, adds further support for a causal role of this gene in tremor disorders and implicates increased expression levels of LINGO1 as a potential pathogenic mechanism.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Additional Information:	This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Publisher:	Wolters Kluwer Health on behalf of the American Academy of Neurology
ISSN:	2376-7839
Date of First Compliant Deposit:	19 February 2019
Date of Acceptance:	14 November 2018
Last Modified:	05 May 2023 07:26
URI:	https://orca.cardiff.ac.uk/id/eprint/119665

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