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Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis

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References

  1. Wilhelm D, Palmer S, Koopman P. Sex determination and gonadal development in mammals. Physiol Rev. 2007;87:1–28.

    Article  CAS  PubMed  Google Scholar 

  2. Hughes IA. Disorders of sex development: a new definition and classification. Best Pract Res Clin Endocrinol Metab. 2008;22:119–34.

    Article  PubMed  Google Scholar 

  3. Sekido R, Lovell-Badge R. Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature. 2008;12:930–4.

    Article  Google Scholar 

  4. Ravel C, Chantot-Bastaraud S, Siffroi JP. Molecular mechanisms in sex determination: from gene regulation to pathology. Gynecol Obstet Fertil. 2004;32:584–94.

    Article  CAS  PubMed  Google Scholar 

  5. Ravel C, Lakhal B, Elghezal H, Braham R, Saad A, Bashamboo A, et al. Novel human pathological mutations. Gene symbol: SRY. Disease: XY sex reversal. Hum Genet. 2009;126:333.

    PubMed  Google Scholar 

  6. Ono M, Harley VR. Disorders of sex development: new genes, new concepts. Nat Rev Endocrinol. 2013;9:79–91.

    Article  CAS  PubMed  Google Scholar 

  7. White S, Ohnesorg T, Notini A, Roeszler K, Hewitt J, Daggag H, et al. Copy number variation in patients with disorders of sex development due to 46, XY gonadal dysgenesis. PLoS ONE. 2011;6:e17793. doi:10.1371/journal.pone.0017793.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  8. Bashamboo A, Ledig S, Wieacker P, Achermann JC, McElreavey K. New technologies for the identification of novel genetic markers of disorders of sex development (DSD). Sex Dev. 2010;4:213–24.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  9. Ledig S, Hiort O, Scherer G, Hoffmann M, Wolff G, Morlot S, et al. Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci. Hum Reprod. 2010;25:2637–46.

    Article  CAS  PubMed  Google Scholar 

  10. Larson A, Nokoff NJ, Travers S. Disorders of sex development: clinically relevant genes involved in gonadal differentiation. Discov Med. 2012;14:301–9.

    PubMed  Google Scholar 

  11. Barbaro M, Cicognani A, Balsamo A, Löfgren A, Baldazzi L, Wedell A, et al. Gene dosage imbalances in patients with 46, XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis. Clin Genet. 2008;73:453–64.

    Article  CAS  PubMed  Google Scholar 

  12. Tannour-Louet M, Han S, Corbett ST, Louet JF, Yatsenko S, Meyers L, Shaw CA, Kang SH, Cheung SW, Lamb DJ. Identification of de novo copy number variants associated with human disorders of sexual development. PLoS One. 2010 26; 5:e15392. doi: 10.1371/journal.pone.0015392.

  13. Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, et al. Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet. 2007;122:63–70.

    Article  PubMed  Google Scholar 

  14. Norling A, Lindén Hirschberg A, Iwarsson E, Persson B, Wedell A, Barbaro M. Novel candidate genes for 46, XY gonadal dysgenesis identified by a customized 1 M array-CGH platform. Eur J Med Genet. 2013;56:661–8.

    Article  PubMed  Google Scholar 

  15. Arboleda VA, Lee H, Sánchez FJ, Délot EC, Sandberg DE, Grody WW, et al. Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex development. Clin Genet. 2013;83:35–43.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

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Contributors

SJ and CR wrote the protocol, designed the trial and did the genetic analysis. AB and KME provided additional scientific advice, guidance, and reviewed the protocol. MAB and SO coordinated the study. LP recruited the patients to the study. The report was written by CR, SJ and AB with contribution, review, and approval from all authors.

Conflicts of interest

None.

Author information

Authors and Affiliations

  1. CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, F-35033, Rennes, France

    S. Jaillard & M. A. Belaud-Rotureau

  2. Univ Rennes1, Faculté de médecine, Histologie et Embryologie, F-35043, Rennes, France

    S. Jaillard & Célia Ravel

  3. Institut Pasteur, Unité Génétique du Développement Humain, Paris, France

    A. Bashamboo & K. McElreavey

  4. CHU Rennes, Service de Génétique Clinique, F-35033, Rennes, France

    L. Pasquier & S. Odent

  5. CHU Rennes, Service de Biologie de la Reproduction-CECOS, F-35033, Rennes, France

    Célia Ravel

Authors
  1. S. Jaillard
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  2. A. Bashamboo
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  3. L. Pasquier
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  4. M. A. Belaud-Rotureau
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  5. K. McElreavey
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  6. S. Odent
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  7. Célia Ravel
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Corresponding author

Correspondence to Célia Ravel.

Additional information

Capsule We report the usefulness of a combined approach (karyotype, FISH and array-CGH) to deliver an accurate molecular diagnosis in patients presenting with 46, XY DSD in a clinical setting and describe the results in two women 46, XY DSD with complete or partial gonadal dysgenesis.

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Jaillard, S., Bashamboo, A., Pasquier, L. et al. Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis. J Assist Reprod Genet 32, 287–291 (2015). https://doi.org/10.1007/s10815-014-0383-0

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  • DOI: https://doi.org/10.1007/s10815-014-0383-0

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