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Fragile X syndrome (FXS) is not a common disorder, but it should gain more awareness because of the significant impact it has on those who have the mutation and those who carry it. In a news segment, “Behind the Mystery,” geneticist Dr. Tamar Goldwaser discussed the signs of FXS and the next steps if you or your child are diagnosed with FXS or as a carrier of this disorder.

What is Fragile X Syndrome?

FXS is a genetic disorder caused by a mutation in the FMR1 gene, located on the X-chromosome, and passed down by carriers. Boys are more often affected, with about 1 in 5,000 males being affected. The FMR1 gene codes for a protein called FMRP – a binding protein with a vital role in neural development and activity. Typically, the FMR1 gene is made up of trinucleotide repeats (repeating segments of DNA building blocks) within the FMR1 gene. If there are more than 200 repeat, the gene will shut off. When the FMR1 gene shuts off, it leads to a variety of symptoms including intellectual disabilities, learning disabilities, behavioral issues, symptoms of autism, spectrum disorder, and anxiety. Some physical manifestations of FXS are a long face and frequent ear infections.

Carriers of Fragile X Syndrome

FXS is passed down from female carriers who have 55-199 trinucleotide repeats. When female carriers have children, the number of repeats in the FMR1 gene can expand to a size greater than 200 repeats, causing FXS in their offspring. Carriers are also at risk for various symptoms even though they do not directly have FXS. Fragile X-Associated Tremor/Ataxia syndrome impacts FXS carriers once they reach their 50s or 60s. Symptoms are sometimes mistaken for Parkinson’s Disease because the syndrome causes balance issues, cognitive decline, and intention tremors. Female carriers are also at risk for infertility at a young age, primary ovarian insufficiency, and premature menopause.

Diagnosing Fragile X Syndrome

Dr. Goldwaser believes that “knowledge is power,” and everyone should have the opportunity to get carrier screening, especially since FXS can be passed down from carriers who don’t have symptoms. She recommends getting your screening under the guidance of your OB-GYN or a genetic counselor since the test results can be complex to interpret and the news can be difficult to handle.

Pediatricians might also recommend Fragile X testing if they suspect that a child might have FXS. Treatment of FXS involves professionals from several specialists including Pediatrics, early intervention services, developmental pediatricians, and a geneticist.

Genetic Screening at Maternal Fetal Medicine

At MFM, Dr. Goldwaser and our team of experienced gynecologists can perform carrier testing for Fragile X and other important genetic conditions. Using your test results, we will discuss your reproductive options and offer you resources if you are found to be a carrier. Prenatal diagnosis with amniocentesis or chorionic villus sampling, in-vitro fertilization, and gamete donation are some available approaches that are offered to genetic carriers who are interested. Prenatal diagnosis of FXS can help expecting parents make important decisions about what type of facility to deliver in, which insurance policies to select, what neighborhoods to live in, and can even help make decisions related to their other children at home.

Call our New York, NY office today or schedule a consultation online if you are concerned you may be a carrier of FXS. Our medical geneticist, Dr. Goldwaser, will be happy to speak with you.

Maternal Fetal Medicine blogs are intended for educational purposes only and do not replace certified professional care. Medical conditions vary and change frequently. Please ask your doctor any questions you may have regarding your condition to receive a proper diagnosis or risk analysis. Thank you!