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

Bharat Thyagarajan, Matthew Bower, Michael Berger, Sidney Jones, Michelle Dolan, Xinjing Wang

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)95-98
Number of pages4
JournalArchives of Pathology and Laboratory Medicine
Volume132
Issue number1
StatePublished - Jan 2008

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