Article
Identification of a novel epigenetic marker for typical and mosaic presentations of Fragile X syndrome.
Expert review of molecular diagnostics - 1 Jan 2000
da Silva Camilla Pereira, Camuzi Diego, Reis Adriana Helena de Oliveira, Gonçalves Andressa Pereira, Dos Santos Jussara Mendonça, Machado Filipe Brum, Medina-Acosta Enrique, Soares-Lima Sheila Coelho, Santos-Rebouças Cíntia Barros
Abstract excerpt
BACKGROUND: Fragile X syndrome (FXS) is primarily due to CGG repeat expansions in the FMR1 gene. FMR1 alleles are classified as normal (N), intermediate (I), premutation (PM), and full mutation (FM). FXS patients often carry an FM, but size mosaicism can occur. Additionally, loss of methylation boundary upstream of repeats results in de novo methylation spreading to FMR1 promoter in FXS patients. RESEARCH DESIGN...
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