A novel polymorphism in the FMR1 gene: implications for clinical testing of fragile X syndrome.

Archives of Pathology & Laboratory Medicine
Bharat ThyagarajanXinjing Wang

Abstract

Fragile X syndrome is the most common cause of inherited mental retardation among males. In most cases, the molecular basis of fragile X syndrome is the expansion and subsequent methylation of a CGG trinucleotide repeat in the 5' untranslated region of the fragile X mental retardation 1 (FMR1) gene. Laboratory diagnosis usually relies on a combination of Southern blot and polymerase chain reaction analyses. In this case report we describe an unusual Southern blot result in a patient who presented with developmental delay and had a normal CGG repeat number by polymerase chain reaction analysis. Further investigation revealed a novel G3310C transversion in the FMR1 gene resulting in a new recognition site for the BssHII restriction enzyme. This novel restriction site could potentially mimic a partial deletion of the FMR1 gene on Southern blot analysis and thus represents a possible pitfall in the diagnosis of fragile X syndrome.

References

Jul 12, 1996·American Journal of Medical Genetics·G TurnerH Robinson
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Mar 7, 2001·The Journal of Molecular Diagnostics : JMD·T M DalyB A Zehnbauer
Oct 26, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Stephanie ShermanDeborah A Driscoll

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