Hum. Reprod. Advance Access originally published online on September 30, 2004
Human Reproduction 2004 19(12):2759-2766; doi:10.1093/humrep/deh502
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Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B
1Institute of Molecular Genetics-CNR, 27100 Pavia, 2Dibit-San Raffaele Scientific Institute, 20132 Milano, Departments of 3 Biology and Genetics for Medical Sciences and 4Obstetrics and Gynecology, University of Milano, 20133 Milano, 5San Gerardo Hospital, University of Milano Bicocca, 20126 Milano, Departments of 6 Obstetrics and Gynecology and 9 Pathology and Medical Genetics, University of Pavia, 27100 Pavia, 7 Cytogenetics and Genetics Unit, Azienda Ospedaliera Careggi, 50139 Firenze and 8 Department of Gynecology and Human Reproduction, University of Firenze, Firenze, Italy
10 To whom correspondence should be addressed at: Dibit-San Raffaele Scientific Institute, Via Olgettina 58, 20132 Milano, Italy. Email: toniolo.daniela{at}hsr.it
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.
Key words: DACH2/POF1B/premature ovarian failure/susceptibility gene
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