What is the gene defect of fragile X syndrome?
Mutations in the FMR1 gene cause fragile X syndrome. The FMR1 gene provides instructions for making a protein called FMRP. This protein helps regulate the production of other proteins and plays a role in the development of synapses , which are specialized connections between nerve cells.
What causes the Fragile X disorder?
Fragile X is caused by a mutation in the FMR1 gene that prevents the body from making an important protein, called FMRP. This protein helps create and maintain connections between brain cells and the nervous system. When FMRP is missing, signals from the brain may be misdirected.
What chromosome causes fragile X syndrome?
Fragile X results from a change or mutation in the Fragile X Mental Retardation 1 (FMR1) gene, which is found on the X chromosome. The gene normally makes a protein called Fragile X Mental Retardation Protein, or FMRP.
What is the life expectancy of someone with Fragile X?
Life expectancy for people with fragile X syndrome is generally normal. Many affected people participate in an active lifestyle and have good health. Some people are more prone to a number of medical problems, such as ear infections and/or seizures. Regular medical checkups and awareness of increased health risks may improve the outlook for affected people.
How are people diagnosed with Fragile X?
a large forehead or ears,with a prominent jaw
What does it mean to have fragile X syndrome?
Fragile X syndrome is the most common inherited cause of intellectual disability. People affected with fragile X syndrome have some degree of developmental delay, intellectual disabilities, autism, learning disabilities, ADHD, seizures, and/or behavioral issues; however, there is a wide range of ability among affected individuals.
What are chromosomes does fragile X syndrome affect?
X-linked dominant disorders such as fragile X syndrome are caused by an abnormal gene located on the X chromosome. Females with the abnormal gene may be affected by this disorder. Males are usually more severely affected than females). It is the absence or severe reduction of the protein made by the FMR1 gene, FMRP, that causes fragile X syndrome.