What happens to a child with Fragile X syndrome?
What happens to a child with Fragile X syndrome?
Some children with fragile X also have changes to their face and body that can include: A large head. A long, narrow face. Large ears. A large forehead and chin. Loose joints. Flat feet. Enlarged testicles (after puberty)
What causes motor and language delays in Fragile X syndrome?
Motor and language delays are usually present but become more apparent over time. As mentioned above, fragile X syndrome is caused by a mutation in the FMR1 gene located on the X chromosome at Xq27.3.
What happens to the FMRP gene in Fragile X syndrome?
Methylation is a chemical change to the DNA that carries the genetic code of a gene and the abnormal methylation associated with fragile X syndrome causes the gene to be unable to produce FMRP, the protein made by the FMR1 gene, needed for normal development.
How many people are carriers of Fragile X syndrome?
However, about four times as many females appear to be carriers of the altered gene as do males (1:250 females and 1:1000 males). Fragile X syndrome has been found in all major ethnic groups and races.
What causes a child to have fragile X syndrome?
What Causes It? The FMR1 gene, which is on the X chromosome, makes a protein called FMR that helps nerve cells talk to one another. A child needs this protein for his brain to develop normally. Children with fragile X make too little or none of it. People with this condition also have more copies than usual of a DNA segment known as CGG.
Methylation is a chemical change to the DNA that carries the genetic code of a gene and the abnormal methylation associated with fragile X syndrome causes the gene to be unable to produce FMRP, the protein made by the FMR1 gene, needed for normal development.
How many CGG repeats does fragile X syndrome have?
Individuals with fragile X syndrome nearly always have (in greater than 99% of cases) a full mutation of the FMR1 gene which means that they have over 200 CGG repeats and abnormal methylation of the gene.
Is there a cure for Fragile X syndrome?
Fragile X syndrome is caused by a change (mutation) in the FMR1 gene and is inherited in an X-linked dominant manner. There is no cure yet and treatment is based on the symptoms present in the person.