Copy number variation of LINGO1 in familial dystonic tremor.

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.

SUBMITTER: Alakbarzade V 

PROVIDER: S-EPMC6384021 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature