Fragile X Syndrome: Symptoms, Causes, Diagnosis, and Treatment, Expand Section. 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.
6/27/2016 · Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in the FMR1 gene where a DNA segment, known as the CGG triplet repeat, is expanded. Normally, this DNA segment is repeated from 5 to about 40 times. In people with fragile X syndrome, however, the CGG segment is repeated more than 200 times.
43 rows · 5/12/2016 · Fragile X syndrome is caused by a change (mutation) in the FMR1 gene and is.
6/7/2012 · Fragile X syndrome and its associated conditions are caused by changes (mutations) in the FMR1 gene found on the X chromosome. This mutation affects how the body makes the Fragile X Mental Retardation Protein, or FMRP. The mutation causes the body to make only a little bit or none of the protein, which can cause the symptoms of Fragile X.
Even if one X chromosome has the gene change, the other copy can be fine. Boys have one X and one Y chromosome. If the X chromosome has the gene change, they will have symptoms of fragile X…
Fragile X syndrome (also called Fragile X) is the most common inherited form of mental problems (mental retardation). Fragile X syndrome is caused by changes in a single X chromosome (FMR1). FMR1 does not produce enough protein (FMRP) that works cell communication.
