A repeated pattern in between CGG repeats that may help to stabilize some premutations (FXPM). AGG interruptions can sometimes lower the chance of expansion to the full mutation.
This repeated pattern in the FMR1 gene causes the gene to be unstable. More CGG repeats means a longer and more unstable form of the FMR1 gene. People with over 200 CGG repeats have the full mutation that shuts off the gene and causes fragile X syndrome.
The word carrier usually means a healthy person who can pass a health condition on to other people. In genetic or hereditary conditions that run in families, a carrier can pass on a gene that can cause a health condition in their child.
People with fragile X premutation (FXPM) are sometimes called fragile X carriers, but they can have related health issues.
Chromosomes are tiny structures inside every part of the body. Humans have 46 chromosomes that hold over 20,000 genes.
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Fragile X syndrome is a common cause of inherited mild to moderate intellectual disability, developmental disabilities, and behavior issues. Also known as Martin-Bell syndrome.
Fragile X premutation is a form of the FMR1 gene that can be present in males or females. It does not cause fragile X syndrome, but some people with FXPM can develop related health issues. People with FXPM are sometimes called fragile X "carriers. " Women with FXPM can have children with fragile X syndrome.
The FMR1 gene can be measured by counting a repeated pattern called a CGG repeat. The premutation has 55-200 CGG repeats.
Fragile X-associated tremor/ataxia syndrome is a degenerative neurological condition that can affect older adults with fragile X premutation (FXPM). The main symptoms are trembling hands and difficulty with balance and walking. It is sometimes misdiagnosed as Parkinson's disease and is less common and usually milder in women.
Fragile X Primary Ovarian Insufficiency in women with fragile X premutation (FXPM) causes the ovaries to not work as well as they should. This can make it harder to become pregnant or cause early menopause.
The gene that provides instructions for an important brain chemical (FMRP). FMR1 is sometimes called the "fragile X gene." It is located at the end of the X chromosome.
A chemical needed for healthy brain development and function. The FMR1 gene gives the body instructions to make FMRP. FMRP is decreased in people with fragile X syndrome.
Note: the FMRP abbreviation stands for "fragile X mental retardation protein." The term mental retardation is no longer used. Instead, we say intellectual disability.
Fragile X-associated neuropsychiatric disorders is a newly suggested condition that may affect some adults with the fragile X premutation (FXPM).
A gene gives an instruction--like a recipe--that directs the body to make a chemical. These chemicals do things like regulate growth and development, break down food and medicine, and make up structures like bone, muscle, hair, and skin.
Genes are located on chromosomes in every part of the body. They are passed down from parents to children in the egg and sperm when a new pregnancy is first started. We have over 20,000 genes!
A mutation in the FMR1 fragile X gene that is greater than 200 CGG repeats causes the gene to stop working so that the brain chemical FMRP is lacking. This causes the features of fragile X syndrome.
Methylation is the name of the chemical change that happens to an FMR1 gene with a mutation. Methylation "silences" or shuts down the gene, which stops the production of the FMRP and causes the symptoms of fragile X syndrome.
A gene form that does not work properly, causing problems in health or development.
