Objective: To elucidate the genetic cause of a large five generation South Indian
family with multiple individuals with predomiantly an upper limb postural tremor and
posturing in keeping with another form of tremor, namely, dystonic tremor (DT).
Methods: Whole genome SNP microarray analysis was undertaken to look for copy
number ...
Objective: To elucidate the genetic cause of a large five generation South Indian
family with multiple individuals with predomiantly an upper limb postural tremor and
posturing in keeping with another form of tremor, namely, dystonic tremor (DT).
Methods: Whole genome SNP microarray analysis was undertaken to look for copy
number variants (CNVs) 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 ~550kb 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.