Neurology. Genetics · 2019
Copy number variation of LINGO1 in familial dystonic tremor.
СтатьяНазвание и аннотация: Перевод в очереди
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Alakbarzade Vafa, Iype Thomas, Chioza Barry A, Singh Royana, Harlalka Gaurav V, Hardy Holly, Sreekantan-Nair Ajith, Proukakis Christos, Peall Kathryn, Clark Lorraine N, Caswell Richard, Lango Allen Hana, Wakeling Matthew, Chilton John K, Baple Emma L, Louis Elan D, Warner Thomas T, Crosby Andrew H
Аннотация
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.
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.