Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B

S. Bione, F. Rizzolio, C. Sala, R. Ricotti, M. Goegan, M. C. Manzini, R. Battaglia, A. Marozzi, W. Vegetti, L. Dalprà, P. G. Crosignani, E. Ginelli, R. Nappi, S. Bernabini, V. Bruni, F. Torricelli, O. Zuffardi, Daniela Toniolo

Research output: Contribution to journalArticlepeer-review


Background: Balanced X;autosome translocations interrupting the 'critical region' of the long arm of the human X chromosome are often associated with premature ovarian failure (POF). However, the mechanisms leading to X-linked ovarian dysfunction are largely unknown, as the majority of the X chromosome breakpoints have been mapped to gene-free genomic regions. A few genes have been found to be interrupted, but their role has never been clarified. Methods and results: By fine mapping of the X chromosome breakpoint of an X;autosome balanced translocation, we identified a new interrupted gene, POF1B. We performed a mutation analysis of POF1B and of another gene previously identified, DACH2, localized ∼700 kb distal in Xq21, in a cohort of >200 Italian POF patients. Rare mutations were found in patients in both genes. Conclusions: Our findings could not demonstrate any involvement of POF1B, but suggest that rare mutations in the DACH2 gene may have a role in the POF phenotype.

Original languageEnglish
Pages (from-to)2759-2766
Number of pages8
JournalHuman Reproduction
Issue number12
Publication statusPublished - Dec 2004


  • DACH2
  • POF1B
  • Premature ovarian failure
  • Susceptibility gene

ASJC Scopus subject areas

  • Physiology
  • Developmental Biology
  • Obstetrics and Gynaecology
  • Reproductive Medicine


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