Category : Health and you
Together for Awareness, Together for Hope
What is Fragile X syndrome?
- A genetic disorder caused by a mutation in the FMR1 gene.
- Located on the X chromosome.
- Required for normal cognitive development and synaptic function in the brain.
- In individuals with FXS, there is an abnormal expansion of the CGG triplet repeat in the FMR1
- This expanded repeat causes silencing of the FMR1 gene.
- As a result, the body is unable to produce Fragile X Mental Retardation Protein (FMRP).
- A vital protein for brain growth and function is FMRP
- Lack of FMRP leads to the neurological and behavioral symptoms associated with FXS.
Why World Fragile X Day Matters
- Awareness leads to early diagnosis — critical for access to interventions and therapies.
- Supports research funding for better treatments and possibly a cure.
- Fosters a sense of global community among families, advocates, and professionals.
- Encourages inclusive education and dignified care for individuals with FXS.
Key Facts:
- Prevalence– 1 in 4,000 males,1 in 6,000 females globally.
- Gender impact: Males are usually more severely affected because they have only one X chromosome.
- Common symptoms:
- Intellectual and learning disabilities
- Speech and language delays
- Anxiety and social withdrawal
- Hyperactivity and attention issues
- Traits of autism spectrum disorder (ASD)
- Physical characteristics may include:
- A long, narrow face
- Prominent ears
- Hyperflexible joints and flat feet
Closing Thoughts
- World Fragile X Day is more than a day of awareness — it’s a call for inclusion, innovation, and love. By understanding Fragile X Syndrome, we take a step toward a more informed, inclusive, and compassionate world.
- Let’s light the world with hope, science, and solidarity on July 22!
Dr. Jagadisha T.V
Assistant Professor
Department of Medical Genetics
JSS Medical College and Hospital
JSS-AHER, Mysuru- 570015
E-mail: jagadishatvdr@jssuni.edu.in