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Hum. Reprod. Advance Access published online on September 30, 2004
Human Reproduction, doi:10.1093/humrep/deh502
© 2004 by European Society of Human Reproduction and Embryology
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Article

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

S. Bione 1, F. Rizzolio 2, C. Sala 2, R. Ricotti 1, M. Goegan 2, M.C. Manzini 1, R. Battaglia 1, A. Marozzi 3, W. Vegetti 4, L. Dalprà 5, P.G. Crosignani 4, E. Ginelli 3, R. Nappi 6, S. Bernabini 7, V. Bruni 8, F. Torricelli 7, O. Zuffardi 9, and D. Toniolo 10*

1 Institute of Molecular Genetics-CNR, 27100 Pavia, Italy
2 Dibit-San Raffaele Scientific Institute, 20132 Milano, Italy
3 Department of Biology and Genetics for Medical Sciences, University of Milano, 20133 Milano, Italy
4 Department of Obstetrics and Gynecology, University of Milano, 20133 Milano, Italy
5 San Gerardo Hospital, University of Milano Bicocca, 20126 Milano, Italy
6 Department of Obstetrics and Gynecology, University of Pavia, 27100 Pavia, Italy
7 Cytogenetics and Genetics Unit, Azienda Ospedaliera Careggi, 50139 Firenze, Italy
8 Department of Gynecology and Human Reproduction, University of Firenze, Firenze, Italy
9 Department of Pathology and Medical Genetics, University of Pavia, 27100 Pavia, Italy
10 Institute of Molecular Genetics-CNR, 27100 Pavia, Italy; Dibit-San Raffaele Scientific Institute, 20132 Milano, Italy

* To whom correspondence should be addressed. E-mail: toniolo.daniela{at}hsr.it.


  Abstract

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.

Keywords: DACH2; POF1B; premature ovarian failure; susceptibility gene.
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