FRAGILE X SYNDROME

Background

Fragile X syndrome (OMIM 300624) is characterised by moderate to severe mental retardation, macro-orchidism and distinct facial features which include a long face, large ears and prominent jaw. Fragile X syndrome is caused by the expansion of a CGG repeat in the FMR1 gene and abnormal methylation of the gene. Premutations of FMR1 do not cause mental retardation but are associated with premature ovarian insufficiency in females and late onset tremor/ataxia syndrome in males and females. Premutations are unstable and, when transmitted by a female, have a risk of expanding to a full mutation. Alleles within the intermediate size range are not thought to be associated with developmental delay/learning disability but may display size instability in future generations.
 

Testing at WRGL

A fluorescent triplet-primed PCR-based assay (AmplideX® PCR/CE FMR1 Kit) is used to determine the size of the CGG repeat in the FMR1 gene. Prenatal analysis can be performed – please notify the laboratory if this is required.
 
The CGG repeat range definitions used in this laboratory are those defined by the European Molecular Genetics Quality Network (EMQN) and are shown in the following table.

Cost, Sample Requirements & Turnaround Times