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Fragile X Syndrome Carrier Screening

Fragile X Syndrome Carrier Screening

Fragile X syndrome (FXS) is a genetic disorder. Symptoms often include mild to moderate intellectual disability. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of people have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common and seizures occur in about 10%. Males are usually more affected than females

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What is fragile X syndrome?

Fragile X syndrome is a common hereditary syndrome that causes intellectual disabilities. Its incidence is 1/3600 in males and between 1/4000 and 1/6000 in females; furthermore, approximately 1/250 females are premutation carriers. Fragile X syndrome is caused by an abnormal increase in the number of CGG repeats in the FMR1 gene on position q27.3 of the X chromosome. The presence of more than 200 CGG repeats leads to a high degree of methylation in the FMR1 gene. This silences the FMR1 gene and prevents it from producing the fragile X mental retardation protein (FMRP), which is an RNA-binding protein. FMRP is involved in the expression of other genes and is associated with the development of neurons. Therefore, the lack of FMRP affects neuron development as well as the connections between neurons, which results in fragile X syndrome.

The fragile X syndrome screening test requires that a sample of 2~3 c.c. of blood be collected. The sample is then couriered to our laboratory for DNA extraction. Specifically, polymerase chain reaction is performed to amplify the (CGG)n repeat segment in the FMR1 gene, and the number of repeats and degree of methylation are examined to determine whether the fragile X syndrome genotype is present. A complete results report is then returned to the parents.

Note: Fathers suspected of having the full mutation genotype should undergo methylation analysis for confirmation.
Who that should take the test:
  • Individuals with a family history of fragile X syndrome
  • Individuals with a family history of mental retardation, growth retardation, or autism
  • Individuals with relatively high follicle stimulating hormone (FSH) or infertility issues such as premature ovarian failure (POF)
  • Individuals with a family history of adult-onset ataxia or tremors
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