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Human Reproduction, Vol. 15, No. 1, 197-202, January 2000
© 2000 European Society of Human Reproduction and Embryology

Association between idiopathic premature ovarian failure and fragile X premutation

Anna Marozzi1,6, Walter Vegetti2, Emanuela Manfredini1, Maria Grazia Tibiletti3, Giovanna Testa4, Pier Giorgio Crosignani2, Enrico Ginelli1, Raffaella Meneveri5 and Leda Dalprà5

1 Department of Biology and Genetics for Medical Sciences, University of Milan, Via Viotti 3/5, 20133 Milan, 2 First Department of Obstetrics and Gynaecology, University of Milan, 3 Department of Clinical and Biological Sciences, Ospedale di Circolo, Varese, and 4 Obstetrics and Gynaecology Unit, Department of Clinical and Biological Sciences, University of Insubria, Varese, and 5 Faculty of Medicine, Ospedale San Gerardo, University of Milan-Bicocca, Monza, Italy

A total of 106 women affected by premature ovarian failure (POF) were evaluated for fragile X (FRAXA) premutation. The POF patients were classified as having a familial condition (33 women), at least one relative with early menopause (12 women), or a sporadic condition (61 women). The FRAXA premutation was only detected in patients with familial (four out of 33) or sporadic POF (two out of 61). In general, the results obtained indicated that the prevalence [six out of 106, 6%, 95% confidence interval (CI) 3–11%] of FRAXA premutation is significantly higher in women affected by POF than expected (P = 1.24x10–3), suggesting a phenotype consequence of the premutation alleles. This relationship is more convincingly derived from the observation in two analysed pedigrees of a co-segregation between FRAXA and POF. These findings suggest a possible involvement of premutated alleles in ovarian failure, and indicate the utility of POF families screening for FRAXA premutation in order to prevent the transmission of mental retardation syndrome.

Key words: CGG expansion/FMR1 gene/fragile X syndrome/FRAXA premutation/premature ovarian failure

6 To whom correspondence should be addressed


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