Fragile X syndrome

Fragile X syndrome

Subject: Science and technology

Section: Health

Concept :

• On the occasion of World Fragile X Day, which raises awareness about the rare genetic illness — Fragile X or Martin-Bell syndrome — that causes intellectual disability and autism, India Gate gleamed teal on Saturday.

About Fragile X Syndrome

• Fragile X syndrome(FXS) is a genetic disorder. It is also known as Martin-Bell syndrome or Marker X syndrome.
• The syndrome is the leading inherited cause of autism in 4% of the population worldwide. Boys often have a more serious form of it than girls.
• Caused by: The syndrome is caused by changes in a gene called FMR1, which makes an important protein (FMRP). This protein is required for brain development. Children with Fragile X syndrome make too little or none of it.
• Symptoms: The symptoms are learning difficulty, speech delay, aggressive behaviour, hyperactivity, attention deficit, problems in motor skills, etc.
• Passed on from A mother who is a carrier of FXS has a 50% chance of passing the mutated gene to her children, who will either be carriers or have FXS. Men who are carriers do not pass the pre-mutation to their sons, but only daughters, who become carriers.
• Estimated cases of Fragile X Syndrome in India: It is estimated there are 4 lakh individuals who have been identified with mutated FMRI in India and 40 lakh undiagnosed carriers of the gene.
• Diagnosis: The simplest tool for timely detection of Fragile X Syndrome is a DNA test.
• Treatment: The disorder cannot be cured, but early therapy can improve the individual’s quality of life.