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

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9 Scopus citations


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
Issue number1
StatePublished - Feb 1 2019
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)


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