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 journalArticle

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.

Original languageEnglish
Pages (from-to)2759-2766
Number of pages8
JournalHuman Reproduction
Volume19
Issue number12
DOIs
Publication statusPublished - Dec 2004

Fingerprint

Primary Ovarian Insufficiency
Genetic Association Studies
Mutation
Chromosome Breakpoints
Genes
X Chromosome
Chromosomes, Human, X
Phenotype

Keywords

  • DACH2
  • POF1B
  • Premature ovarian failure
  • Susceptibility gene

ASJC Scopus subject areas

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

Cite this

Bione, S., Rizzolio, F., Sala, C., Ricotti, R., Goegan, M., Manzini, M. C., ... Toniolo, D. (2004). Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. Human Reproduction, 19(12), 2759-2766. https://doi.org/10.1093/humrep/deh502

Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. / Bione, S.; Rizzolio, F.; Sala, C.; Ricotti, R.; Goegan, M.; Manzini, M. C.; Battaglia, R.; Marozzi, A.; Vegetti, W.; Dalprà, L.; Crosignani, P. G.; Ginelli, E.; Nappi, R.; Bernabini, S.; Bruni, V.; Torricelli, F.; Zuffardi, O.; Toniolo, Daniela.

In: Human Reproduction, Vol. 19, No. 12, 12.2004, p. 2759-2766.

Research output: Contribution to journalArticle

Bione, S, Rizzolio, F, Sala, C, Ricotti, R, Goegan, M, Manzini, MC, Battaglia, R, Marozzi, A, Vegetti, W, Dalprà, L, Crosignani, PG, Ginelli, E, Nappi, R, Bernabini, S, Bruni, V, Torricelli, F, Zuffardi, O & Toniolo, D 2004, 'Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B', Human Reproduction, vol. 19, no. 12, pp. 2759-2766. https://doi.org/10.1093/humrep/deh502
Bione, S. ; Rizzolio, F. ; Sala, C. ; Ricotti, R. ; Goegan, M. ; Manzini, M. C. ; Battaglia, R. ; Marozzi, A. ; Vegetti, W. ; Dalprà, L. ; Crosignani, P. G. ; Ginelli, E. ; Nappi, R. ; Bernabini, S. ; Bruni, V. ; Torricelli, F. ; Zuffardi, O. ; Toniolo, Daniela. / Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B. In: Human Reproduction. 2004 ; Vol. 19, No. 12. pp. 2759-2766.
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AU - Sala, C.

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AU - Goegan, M.

AU - Manzini, M. C.

AU - Battaglia, R.

AU - Marozzi, A.

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AU - Crosignani, P. G.

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AU - Nappi, R.

AU - Bernabini, S.

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AU - Toniolo, Daniela

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