Premature ovarian failure (POF) and fragile X premutation females: From POF to fragile X carrier identification, from fragile X carrier diagnosis to POF association data

✍ Scribed by Uzielli, M.L. Giovannucci; Guarducci, S.; Lapi, E.; Cecconi, A.; Ricci, U.; Ricotti, G.; Biondi, C.; Scarselli, B.; Vieri, F.; Scarnato, P.; Gori, F.; Sereni, A.

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 20 KB
• Volume: 84
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19990528)84:3<300::aid-ajmg27>3.0.co;2-5

✦ Synopsis

Early menopause in the fragile X carriers has been well documented in several reports. All surveys demonstrated that 13-25% of fragile X carriers experienced premature ovarian failure (POF), defined as menopause before the age of 40 years. In 1995 we started screening two groups of subjects as a part of a Fragile X Research Program: 1) women previously diagnosed as fragile X carriers from the register of our center and 2) women with POF and without a family history of fragile X or other forms of mental retardation. In this study we report the preliminary data collected from 75 fragile X families; in 30 of them, POF was present in one or several subjects, all of whom had a fragile X premutation. None of the women with a full mutation experienced POF in our series of patients. We also identified 89 families without a family history of fragile X or mental retardation, and there were 108 subjects who experienced POF, of which 6.5% had a fragile X premutation. This is 70-fold higher than the background prevalence of fragile X premutation in the Italian population and suggests an association with POF. These data confirm the results of other surveys. Am. J. Med. Genet. 84:300-303, 1999.