How Fragile X works
The FMR1 gene on the X chromosome contains a short repeated stretch of DNA (CGG repeats). How many repeats you have decides your status:
| CGG repeats | Status |
|---|---|
| Under 45 | Typical |
| 45–54 | Intermediate (gray zone) |
| 55–200 | Premutation (carrier) |
| Over 200 | Full mutation: Fragile X syndrome |
When a woman with a premutation passes on her X chromosome, the repeat can expand to a full mutation in her child. The chance is small for premutations in the 50s and very high for those near 100 repeats or more. A genetic counselor can give the figure for your repeat size.
Why it's different from other carrier conditions
Most carrier conditions need both partners to carry the same gene. Fragile X is X-linked, so the risk to a pregnancy depends on the mother's result alone. Boys are usually more severely affected than girls, because they have only one X chromosome.
What it means for the carrier herself
Most premutation carriers are healthy, but there are related conditions to know about. About 1 in 5 women with a premutation have early menopause or reduced fertility (Fragile X-associated primary ovarian insufficiency). Some older carriers, more often men, develop a tremor and balance disorder called FXTAS.
Fragile X and autism
Many people with Fragile X syndrome also have autism, and Fragile X is the best-known single-gene cause of it. It explains only a small share of autism overall, but it's one of the few autism-related causes that can be found before pregnancy. Most autism is not caused by a single carrier gene, and carrier screening can't predict it.
Who should get tested
ACOG recommends Fragile X carrier screening for women with a family history of Fragile X, unexplained intellectual disability or developmental delay, autism, or early menopause. Many expanded carrier screens include it for any woman who wants it. The test measures the number of CGG repeats in the FMR1 gene.
See other conditions for your couple in the carrier odds calculator.
General information, not medical advice.
Sources
- ACOG Committee Opinion 691: Carrier screening for genetic conditions (2017)
- Gregg AR et al. Screening for autosomal recessive and X-linked conditions: ACMG practice resource. Genetics in Medicine (2021)
- CDC: Fragile X syndrome
- National Fragile X Foundation
- Archibald AD et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genetics in Medicine (2018)