Abstract
The fragile X syndrome is the most common cause of genetic-based mental retardation. Mutations of the fragile X gene occur as a spectrum of genetic changes. Both premutations and full mutations are associated with a variety of clinical syndromes including mental retardation, autism, premature ovarian aging and failure, and fragile X-associated tremor and ataxia. The mechanisms of inheritance of fragile X gene mutations are complex in that the mutation can change during transmission from one generation to the next. Womens’ healthcare providers should be aware of the association of fragile X premutations with early ovarian aging and premature ovarian failure. Women with the fragile X premutation are at increased risk of having offspring with fragile X syndrome. The American College of Obstetrics and Gynecology recommends that women with an elevated level of follicle-stimulating hormone before the age of 40 years without a known cause; any child with a developmental delay, mental retardation, autism or autistic behavior of unknown etiology; and patients with a family history of mental retardation should be screened for fragile X. Prenatal testing can also be performed on known carriers of a fragile X premutation.
Financial & competing interests disclosure
The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.
No writing assistance was utilized in the production of this manuscript.