Copy number variation of LINGO1 in familial dystonic tremor

Vafa Alakbarzade, Thomas Iype, Barry A. Chioza, Royana Singh, Gaurav V. Harlalka, Holly Hardy, Ajith Sreekantan-Nair, Christos Proukakis, Kathryn Peall, Lorraine N. Clark, Richard Caswell, Hana Lango Allen, Matthew Wakeling, John K. Chilton, Emma L. Baple, Elan D. Louis, Thomas T. Warner, Andrew H. Crosby

Research output: Contribution to journalArticle

4 Scopus citations

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.

Original languageEnglish (US)
Article numbere307
JournalNeurology: Genetics
Volume5
Issue number1
DOIs
StatePublished - Feb 1 2019
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)

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    Alakbarzade, V., Iype, T., Chioza, B. A., Singh, R., Harlalka, G. V., Hardy, H., Sreekantan-Nair, A., Proukakis, C., Peall, K., Clark, L. N., Caswell, R., Lango Allen, H., Wakeling, M., Chilton, J. K., Baple, E. L., Louis, E. D., Warner, T. T., & Crosby, A. H. (2019). Copy number variation of LINGO1 in familial dystonic tremor. Neurology: Genetics, 5(1), [e307]. https://doi.org/10.1212/NXG.0000000000000307