Journal
HUMAN REPRODUCTION
Volume 19, Issue 12, Pages 2759-2766Publisher
OXFORD UNIV PRESS
DOI: 10.1093/humrep/deh502
Keywords
DACH2; POF1B; premature ovarian failure; susceptibility gene
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Funding
- Telethon [GP0247Y01] Funding Source: Medline
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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 similar to700 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.
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