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Article

Clinical Validation of Fragile X Syndrome Screening by DNA Methylation Array.

The Journal of molecular diagnostics : JMD - 1 Nov 2016

Schenkel Laila C, Schwartz Charles, Skinner Cindy, Rodenhiser David I, Ainsworth Peter J, Pare Guillaume, Sadikovic Bekim

Abstract excerpt

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...

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Source

Identifiers

PMID: 27585064
DOI: 10.1016/j.jmoldx.2016.06.005

Genes

FMR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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