Article
A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype.
The Journal of molecular diagnostics : JMD - 1 May 2008
Cecconi Massimiliano, Forzano Francesca, Rinaldi Rosanna, Cappellacci Sandra, Grammatico Paola, Faravelli Francesca, Dagna Bricarelli Franca, Di Maria Emilio, Grasso Marina
Abstract excerpt
The molecular diagnosis of fragile X syndrome relies on the detection of the pathogenic CGG repeat expansion in the FMR1 gene. Deletions and point mutations have occasionally been reported. Rare polymorphisms might mimic a deletion by Southern blot analysis, leading to false-positive results. We describe a novel rare nucleotide substitution within the CGG repeat. The proband was a woman with a positive family...
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