Interesting Facts about Fragile X Syndrome

Fragile X syndrome is a genetic disease caused due to mutation in the Mental Retardation 1 (FMR1) gene of the X chromosome. This gene is responsible for coding a specific protein required for the development of brain. The arm of the chromosome with the mutated gene contains repetitive sequences (more than 200) of the same codon. In such a condition, there is little or no production of the protein, resulting in the symptoms of fragile X syndrome. The more the number of repetition, the severe is the syndrome. According to medical researches, it is the most common inherited mental disorder.

Fragile X Syndrome Facts

As mutation for this syndrome occurs in the sex-linked chromosome, this syndrome is more common among males than females. Since females have two X chromosomes (XX), a baby girl with FMR1 mutation in one X chromosome is a carrier of this syndrome, while a girl with this mutation in both X chromosomes suffers from fragile X syndrome. On the other hand, since males have an X and a Y chromosome, a boy with a defected FMR1 gene expresses fragile X syndrome. It is estimated that one in every 4000 males suffers from this mental retardation syndrome.

Fragile X syndrome is hereditary and is passed from the parents to the offspring. A boy born to a carrier mother and normal father either suffers from this syndrome or is unaffected, whereas a girl born to the same parents is a carrier of the syndrome. In another case, a male with this syndrome will have normal sons (X chromosome is derived from the mother, but not the father) and carrier daughters (as father passes on an X chromosome to all his daughters).

The symptoms of fragile X syndrome are mild at birth, which progress afterward. At times, children with this syndrome are normal at infancy, but develop typical characteristics later. Some of the physical characteristics manifested by individuals having fragile X syndrome are large prominent ears, elongated face with a prominent jaw, highly flexible joints and enlarged testes.

Fragile X syndrome encompasses a group of mental disorders such as hyperactivity, mental retardation, lack of attention, intellectual disability, repetition of activities and other emotional, social and behavioral problems. The symptoms of learning disability may range from mild learning problem to severe intellectual disorders. Other signs and symptoms include abnormality in sensory, social and emotional behavior.

Fragile X syndrome is diagnosed by conducting chromosomal testing. Fragile X syndrome is a lifelong condition and there is no cure. Therapy for this syndrome aims at improving the quality of life and managing the symptoms. Along with the medications, the physician may recommend special education, speech or behavioral therapy in order to manage the symptoms.

In order to educate about the outcomes of fragile X syndrome, the individuals having a family history of this syndrome can opt for genetic counseling. Doing so will help in assessing the possibilities of having children with this syndrome. Nowadays, sophisticated techniques are also available to determine genetic abnormalities in a developing fetus. With the understanding of the underlying causes, current DNA researches are ongoing to unravel positive therapies for this syndrome.