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Copy number variation of LINGO1 in familial dystonic tremor

Alakbarzade, Vafa, Iype, Thomas, Chioza, Barry, Singh, Royana, Harlalka, Gaurav, Hardy, Holly, Sreekantan-Nair, Ajith, Proukakis, Christos, Peall, Kathryn, Clark, Lorraine, Caswell, Richard, Allen, Hana, Wakeling, Matthew, Chilton, John, Baple, Emma, Louis, Elan, Warner, Thomas and Crosby, Andrew 2019. Copy number variation of LINGO1 in familial dystonic tremor. Neurology Genetics 5 (1) , -. 10.1212/NXG.0000000000000307

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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
Publisher: Lippincott, Williams & Wilkins
ISSN: 2376-7839
Date of First Compliant Deposit: 19 February 2019
Date of Acceptance: 14 November 2018
Last Modified: 19 Feb 2019 11:30

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