Article
Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.
Molecular genetics and metabolism - 1 Dec 2013
Yu Hui, van Karnebeek Clara, Sinclair Graham, Hill Alan, Cui Hong, Zhang Victor Wei, Wong Lee-Jun
Abstract excerpt
Deficiency caused by mutations in the creatine transporter gene (SLC6A8/CT1) is an X-linked form of intellectual disability. The presence of highly homologous pseudogenes and high GC content of SLC6A8 genomic sequence complicates the molecular diagnosis of this disorder. To minimize the pseudogene interference, exons 2 to 13 of SLC6A8 were amplified as a single PCR product using gene-specific long-range PCR...
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