Each month, our Carrier Connections program features a different X-linked condition with the goal to increase awareness and education of X-linked conditions and how they impact females.
This month, we are featuring Fragile X syndrome. Fragile X Syndrome is a heritable X-linked disorder caused by an abnormality in the FMR1 gene. This gene makes the protein, FMRP, which plays a critical role in the development of nerve cells and the production of other cellular proteins. An issue in this FMR1 gene causes an absence or severe deficiency of the FMRP protein, resulting in a range of developmental problems and distinctive physical features. It typically results from a specific mutation, or alteration of DNA, that causes a CGG base repeat to occur over 200 times in the damaged FMR1 gene. Molecular genetic testing can be used to diagnose this condition by identifying the 200 CGG repeats in the FMR1 gene.
Women with a fragile X premutation, or 55 to 200 repeats of the FMR1 gene, have an increased risk of having a child with fragile X syndrome. Additionally, female fragile X premutation carriers may experience menstrual and menopausal abnormalities, infertility, diminished ovarian reserve, and chronic hypoestrogenism. Such chronic hypoestrogenism has been associated with impaired bone health and an increased risk of cardiovascular disease. Furthermore, female carriers of a fragile X premutation have been found to have neuropsychiatric issues including neuropathy, increased anxiety and depression, and tremor/ataxia syndrome. Some studies have also associated thyroid abnormalities and hypertension to fragile X syndrome in women.
Today, we are bringing on Evelyn Gee. Evelyn is a symptomatic carrier of fragile X syndrome and lost her sister to fragile X-associated tremor/ataxia syndrome (FXTAS). She works as a fitness specialist for a corporate wellness company and says exercise has always been helpful for her. She has a passion for aerial dance.
Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out rememberthegirls.org.
