Approximately 80% of patients with a diagnosis of Rett syndrome have a mutation detected by DNA sequencing analysis. Of the remaining 20%, a minority will have a deletion as the cause of Rett syndrome, which will be detected by MLPA assay. Duplications involving MECP2 and the neighboring gene L1CAM are associated with severe mental retardation and progressive neurological symptoms in males. This laboratory performs both Sanger sequencing of the MECP2 gene as well deletion/duplication by MLPA.
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In the case of females with features of Rett syndrome, most cases are due to sequence variants. Therefore, sequencing should be ordered first. If sequencing is unrevealing, then deletion/duplication analysis may be considered.
For males, typically there is a deletion or duplication, therefore deletion/duplication should be ordered first followed by sequencing.
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