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Hum Reprod. 2004 Dec;19(12):2759-66. Epub 2004 Sep 30.

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

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1
Institute of Molecular Genetics-CNR, 27100 Pavia, Italy.

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 approximately 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.

PMID:
15459172
DOI:
10.1093/humrep/deh502
[Indexed for MEDLINE]
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