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World Fragile X Day 2023

World Fragile X Day 2023:

The World Fragile X Awareness Day is marked on 22nd July every year, started in 2021 to raise awareness about the rare genetic illness, Fragile X or Martin-Bell syndrome.

  • Fragile X syndrome (FXS) is an inherited genetic disease passed down from parents to children that causes intellectual and developmental disabilities.
  • FXS is the most common hereditary cause of mental disability in boys. It affects 1 in 4,000 boys.
  • It’s less common in girls, affecting about 1 in every 8,000. Boys usually have more severe symptoms than girls.
  • People with FXS usually experience a range of developmental and learning problems.
  • The disease is a chronic or lifelong condition. Only some people with FXS are able to live independently.
  • FXS is caused by a defect in the FMR1 gene located on the X chromosome.
  • The FMR1 (Fragile X Mental Retardation 1 gene) gene is located on the X chromosome in humans.
  • It is responsible for producing a protein called FMRP (Fragile X Mental Retardation Protein), which plays a crucial role in normal brain development and function.
  • Women who are carriers are at an increased risk for premature menopause, or menopause that starts before the age of 40.
  • Men who are carriers are at increased risk for a condition known as Fragile X Tremor Ataxia Syndrome (FXTAS).