Genetics and genetic diagnosis. Association between idiopathic premature ovarian failure and fragile X premutation

Authors: Marozzi, Anna¹; Vegetti, Walter²; Manfredini, Emanuela¹; Tibiletti, Maria Grazia³; Testa, Giovanna⁴; Crosignani, Pier Giorgio²; Ginelli, Enrico¹; Meneveri, Raffaella⁵

Source: Human Reproduction, Volume 15, Number 1, January 2000 , pp. 197-202(6)

Publisher: Oxford University Press

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Abstract:

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 = 1.24×10^–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.

Keywords: CGG expansion

Document Type: Research article

Affiliations: 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

Publication date: 2000-01-01

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Human Reproduction features full-length, peer-reviewed papers reporting original research, clinical case histories, as well as opinions and debates on topical issues. Papers published cover the scientific and medical aspects of reproductive physiology and pathology, endocrinology, andrology, gonad function, gametogenesis, fertilization, embryo development, implantation, pregnancy, genetics, genetic diagnosis, oncology, infectious disease, surgery, contraception, infertility treatment, psychology, ethics and social issues. The highest scientific and editorial standard is maintained throughout the journal along with a rapid rate of publication.

Genetics and genetic diagnosis. Association between idiopathic premature ovarian failure and fragile X premutation

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