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Open Access Case report

Ovarian dysfunction and FMR1 alleles in a large Italian family with POF and FRAXA disorders: case report

Maria Giuseppina Miano1*, Carmela Laperuta1, Pietro Chiurazzi2, Michele D'Urso1 and Matilde Valeria Ursini1

Author Affiliations

1 Institute of Genetics and Biophysics, Adriano Buzzati Traverso, CNR, Naples, Italy

2 Catholic University of Rome, Rome, Italy

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BMC Medical Genetics 2007, 8:18  doi:10.1186/1471-2350-8-18

Published: 11 April 2007

Abstract

Background

The association between premature ovarian failure (POF) and the FMR1 repeat number (41> CGGn< 200) has been widely investigated. Current findings suggest that the risk estimation for POF can be calculated in the offspring of women with pre-mutated FMR1 alleles.

Case presentation

We describe the coexistence in a large Italian kindred of Fragile X syndrome and familial POF in females with ovarian dysfunctions who carried normal or expanded FMR1 alleles. Genetic analysis of the FMR1 gene in over three generations of females revealed that six carried pre-mutated alleles (61–200), of which two were also affected by POF. However a young woman, who presented a severe ovarian failure with early onset, carried normal FMR1 alleles (<40). The coexistence within the same family of two dysfunctional ovarian conditions, one FMR1-related and one not FMR1-related, suggests that the complexity of familial POF conditions is larger than expected.

Conclusion

Our case study represents a helpful observation and will provide familial cases with heterogeneous etiology that could be further studied when candidate genes in addition to the FMR1 premutation will be available.