A Single Nucleotide Variant in the FMR1 CGG Repeat Results in a “Pseudodeletion” and Is Not Associated with the Fragile X Syndrome Phenotype Massimiliano.

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Presentation transcript:

A Single Nucleotide Variant in the FMR1 CGG Repeat Results in a “Pseudodeletion” and Is Not Associated with the Fragile X Syndrome Phenotype Massimiliano Cecconi, Francesca Forzano, Rosanna Rinaldi, Sandra Cappellacci, Paola Grammatico, Francesca Faravelli, Franca Dagna Bricarelli, Emilio Di Maria, Marina Grasso The Journal of Molecular Diagnostics Volume 10, Issue 3, Pages 272-275 (May 2008) DOI: 10.2353/jmoldx.2008.070163 Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 A: Southern blot analysis. DNA was double-digested with EcoRI and EagI and then probed with StB12.3. Family individuals were denoted as proband (P), proband's father (F), and proband's son (S). Proband shows the expected 2.8- and 5.2-kb bands and an extra band of 2.5 kb. The profile is compared to a normal female control (NF). The 2.8- and 2.5-kb bands show the same signal intensity, accounting for a random X inactivation. A premutated female (PF) showing a faint 2.9-kb premutation band attributable to a skewed X inactivation was presented as control. Both proband's father and son demonstrate loss of the normal 2.8-kb band and the appearance of a 2.5-kb smaller band. No expanded bands were detected in the family members. Images were taken from two experiments. B: Sequence analysis. The electropherograms show the heterozygous G>C substitution in the proband and the variant C allele in her father and son. The nucleotide substitution is marked by arrows. The EagI site introduced by the G>C substitution is underlined. C: The agarose gel shows the EagI-digested PCR products encompassing the GGC repeat. The proband shows three bands, one corresponding to the undigested normal allele (338 bp, detected in a normal female control) and two corresponding to the variant allele (EagI digestion products: 198 bp and 140 bp). The digested products were detected in both male hemizygous carriers of the pseudodeletion, the proband's son and the proband's father. The Journal of Molecular Diagnostics 2008 10, 272-275DOI: (10.2353/jmoldx.2008.070163) Copyright © 2008 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions