Fragile X Syndrome
Fragile X syndrome or simply Fragile X is the most common inherited form of intellectual disability.
Cause(s) of the disorder
Fragile X syndrome occurs because the mutated gene (FMR1) cannot produce enough of a protein known as Fragile X Mental Retardation Protein or FMRP that is needed by the body's cells, particularly cells in the brain, to develop and function normally.
Those with Fragile X will either have the CGG code repeat about 55 to 200, which is known as a permutation, or more than about 200 repeats known as a full mutation.
Who does it affect?
Approximately 1 in 3,600 to 4,000 males is affected by the full mutation of the FMR1 gene, and about 1 in 468 males has the premutation form of the FMR1 gene; about one in …show more content…
Majority of males and about one-third of females with Fragile X show exhibit autism-like behaviors.
How is it inherited?
Both men and women can be a carrier for the Fragile X gene since it is carried on an X chromosome.
If the father carries the gene for Fragile X, he will pass it on to his daughters 100% of the time, but none of his son’s would have the disorder.
Since women can only pass on X chromosomes to their children, a mother with the altered gene for Fragile X can pass that gene to either her sons or her daughters. There is 50/50 chance her children will have the disorder given that the father has a two regular X chromosome.
Is there a treatment or cure?
Unfortunately, with current technology there is no way to cure Fragile X syndrome or any definitive treatment. However, there are many ways to help an individual maximize their potential through education and therapies such as speech, language, behavioral, and physical.
Recent advances/direction of current research
Research on a treatments, a cure, or prevention of Fragile X is ongoing. In areas such as gene therapy, gene activation, protein substitute, and FMRP replacement
Fragile X syndrome or simply Fragile X is the most common inherited form of intellectual disability.
Cause(s) of the disorder
Fragile X syndrome occurs because the mutated gene (FMR1) cannot produce enough of a protein known as Fragile X Mental Retardation Protein or FMRP that is needed by the body's cells, particularly cells in the brain, to develop and function normally.
Those with Fragile X will either have the CGG code repeat about 55 to 200, which is known as a permutation, or more than about 200 repeats known as a full mutation.
Who does it affect?
Approximately 1 in 3,600 to 4,000 males is affected by the full mutation of the FMR1 gene, and about 1 in 468 males has the premutation form of the FMR1 gene; about one in …show more content…
Majority of males and about one-third of females with Fragile X show exhibit autism-like behaviors.
How is it inherited?
Both men and women can be a carrier for the Fragile X gene since it is carried on an X chromosome.
If the father carries the gene for Fragile X, he will pass it on to his daughters 100% of the time, but none of his son’s would have the disorder.
Since women can only pass on X chromosomes to their children, a mother with the altered gene for Fragile X can pass that gene to either her sons or her daughters. There is 50/50 chance her children will have the disorder given that the father has a two regular X chromosome.
Is there a treatment or cure?
Unfortunately, with current technology there is no way to cure Fragile X syndrome or any definitive treatment. However, there are many ways to help an individual maximize their potential through education and therapies such as speech, language, behavioral, and physical.
Recent advances/direction of current research
Research on a treatments, a cure, or prevention of Fragile X is ongoing. In areas such as gene therapy, gene activation, protein substitute, and FMRP replacement