Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome.

摘要

In a recent issue of this Journal, Coffee et al. provides an overview of tests currently available for detection of the fragile X mutation and their uses. The article emphasizes that CGG-based tests are inappropriate for population-based fragile X newborn screening, because of the counseling and ethical challenges created by the detection of premutation carriers and the detection of females with full mutations who may never develop symptoms. Coffee et al. suggests that testing for aberrant methylation is a preferable option for newborn screening because it avoids the detection of small allele carriers, a significant fraction of whom will be destined to develop late onset conditions, but that quantification of the FMR1 protein might provide the only solution.