Table 1.

Summary of Molecular Genetic Testing Used in MECP2 Duplication Syndrome

Gene 1Test MethodProportion of Probands with a Pathogenic Variant Detectable by This Method
MECP2Deletion/duplication analysis 2100% 3
Cytogenetic analysis detecting cytogenetically visible duplications of Xq28<5% 4

See Table A. Genes and Databases for chromosome locus and protein. See Molecular Genetics for information on allelic variants.


Testing that identifies exonic or whole-gene deletions/duplications not detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Included in the variety of methods that may be used are: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment.


Duplications ranging from 0.3 to 4 Mb are found in 100% of affected males [Van Esch et al 2005, del Gaudio et al 2006, Clayton-Smith et al 2008, Smyk et al 2008, Lugtenberg et al 2009]. The duplications occur in the chromosome region Xq28, which includes the entire MECP2 gene.


From: MECP2 Duplication Syndrome

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