Copy number variation of <i>LINGO1</i> 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 cond

SUBMITTER: Alakbarzade V 

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

REPOSITORIES: biostudies-literature