I recently had a fertility client who, after successfully becoming pregnant, found out through genetic testing that she is a carrier of the Fragile X gene.
She told me a bit about this gene mutation and how it can also affect fertility.
This prompted me to do more research and pass on this information to you!
What is Fragile X Syndrome?
Fragile X Syndrome is a condition caused by a genetic mutation that can cause learning disabilities, cognitive impairment, ADD, autism spectrum disorder and, rarely, seizures. It can also cause some distinctive physical attributes such as long face and large ears.
It occurs in 1 out of 4,000 males and 1 in 8,000 females, according to the Genetics Home Reference, a service of the U.S. National Library of Medicine.
This syndrome is caused by a mutation in the FMR1 gene. This mutation causes less of a needed protein to develop nerve synapses. If this mutation is repeated more than 200 times, Fragile X syndrome develops.
What Other Conditions are Related to This Gene Mutation?
Some people are carriers of the FMR1 gene mutation, but with fewer repeats. This is called a FMR1 pre-mutation. This may cause some milder learning disabilities or emotional issues, or it can lead to these conditions:
- Fragile X-associated tremor/ataxia syndrome
- Fragile X-associated primary ovarian insufficiency
Fragile X-associated tremor/ataxia syndrome (FXTAS) occurs later if life, after 50 years, and progresses with age. It involves trembling and loss of balance.
Fragile X-associated primary ovarian insufficiency (FXPOI) involves reduced function of the ovaries. It can result in irregular or absent cycles, high FSH, and infertility.
Again according to the U.S. National Library of Medicine’s website, 1 in 200 have this pre-mutation, but only a quarter of that group will actually develop FXPOI (1 in 800.) The odds of developing FXPOI depend on the number of repeats in the mutation. The mutation lies on the X chromosome and is classified as a X-linked dominant pattern, inherited through the mother.
To read more about it, please visit this link: http://ghr.nlm.nih.gov/condition/fragile-x-associated-primary-ovarian-insufficiency
How Can I Find Out if I Have a FMR1 Mutation?
I did find one than one source for genetic testing of this nature online. One option I found was through Labcorp, which I feel has a good reputation.
If you have Fragile X, autism, or mental retardation in your family you may consider testing. If you have early high FSH, or premature ovarian failure you may consider being tested. Here is a LINK to Labcorp’s page on the topic.
This can be a scary topic while trying to conceive, but it may be better to know than not know.
Have you undergone any genetic testing while trying to conceive? Was it helpful?
Does anyone know what our raw data from, say, 23andme testing would say if we had this mutation?
Mary, According to my research, the 23 and Me test odes not cover it.