%0 Journal Article
%T Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array
%A Bekim Sadikovic
%A Charles Schwartz
%A Cindy Skinner
%A David I. Rodenhiser
%A Guillaume Pare
%A Laila C. Schenkel
%A Peter J. Ainsworth
%J The Journal of Molecular Diagnostics
%D 2016
%R 10.1016/j.jmoldx.2016.06.005
%X Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability.
It is most frequently caused by an abnormal expansion of the CGG trinucleotide repeat
(>200 repeats) located in the promoter of the fragile X mental retardation gene (FMR1),
resulting in promoter DNA hypermethylation and gene silencing. Current clinical tests
for FXS are technically challenging and labor intensive, and may involve use of hazardous
chemicals or radioisotopes. We clinically validated the Illumina Infinium HumanMethylation450
DNA methylation array for FXS screening.
%U https://jmd.amjpathol.org/article/S1525-1578(16)30133-7/fulltext