Fragile X Syndrome

What is Fragile X Syndrome?

Fragile X Syndrome (FXS), also known as Martin-Bell syndrome is a genetic condition that causes developmental, intellectual, and behavioural difficulties in people. It can affect both men and women, however males are more severely affected than females. FXS is estimated to be seen in 1 in 11,000 females and 1 in 7000 males.

What is the cause of Fragile X Syndrome?

A gene called the FMR1 gene on the X chromosome gives your body signals to produce the FMRP protein. This FMRP protein is responsible for synapses development. Synapses are important connections in the nerves that help in nerve impulses. A mutation to the FMR1 gene causes Fragile X Syndrome.

Fragile X Syndrome is a X-linked dominant genetic condition which means that the mutated FMRI gene is located on the X chromosome, and only one copy of the mutated FMR1 gene is needed to cause the syndrome. Males have one X-chromosome and one Y-chromosome (XY), which is why they are at higher risk and have more severe symptoms than females who have two X-chromosomes (XX). Because the condition does not affect both the X-chromosomes, women can be carriers of the condition and present no symptoms.

What are the symptoms of Fragile X Syndrome?

Common Fragile X Syndrome symptoms are as follows:

  • Learning disabilities: Low intelligence quotient (IQ)
  • Difficulty in speech and understanding languages
  • Mental health disorders: irritability, social anxiety, obsessive-compulsive behaviour, depression, autism
  • Attention-deficit/hyperactivity disorder (ADHD)
  • Sensory disorders: sensitive to touch, texture, and sounds
  • Physical features: large jaw, forehead, and ears, long narrow face, flat feet, crossed eyes (strabismus)
  • Hypotonia (low muscle tone)
  • Sleep apnea
  • Reproductive issues in women: irregular or no period, difficulty in pregnancy, early menopause
  • Fragile X-Associated Primary Ovarian Insufficiency (FXPOI) is a condition wherein the ovaries are affected. Women with FXPOI have irregular menstrual cycles and can present with infertility.

Can I prevent or detect Fragile X Syndrome in my unborn child?

Since Fragile X Syndrome (FXS) is a genetic condition, it cannot be prevented. If both partners or one partner has a known history of FXS, they should be advised on their risks of transferring the condition to their children and should undergo proper genetic counselling. Here at Akruti IVF, we counsel patients on their best course of action to limit the transfer of Fragile X Syndrome to their off springs. Speak to our experienced doctors today to discuss various options for reproduction through IVF and PGT.