title: Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology.
abstract: BACKGROUND
  Ovarian failure (OF) is considered premature if it occurs before the age of 40. This study investigates the genetic aetiology underlying OF in women under the age of 40 years.
  
  
  METHODS
  We conducted an experimental prospective study performing all genome microarrays in 60 patients younger than 40 years presenting an OF revealed by a decrease of circulating Anti-Müllerian Hormone (AMH) and leading to an oocyte donation program.
  
  
  RESULTS
  We identified nine significant copy number variations (CNVs) including candidate genes potentially implicated in reproductive function. These genes are principally involved in cell division and chromosome segregation (SYCE1, CLASP1, CENP-A, CDC16), in ciliary development and/or function (RSPH1, KIF24), are linked with known gonadal genes or expressed in female genital tract (CSMD1, SEMA6D, KIAA1324).
  
  
  CONCLUSIONS
  Our data strengthen the idea that microarrays should be used in combination with karyotype for aetiological assessment of patients with OF. This analysis may have a therapeutic impact as the identification of new molecular actors for gonadal development or ovarian physiology is useful for the prediction of an ovarian reserve decline and makes possible preventive fertility preservation.
authors.affiliation: CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, F-35033, Rennes, France.|INSERM U1085-IRSET, Université de Rennes 1, F-35042, Rennes, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Jaillard
authors.affiliation: CHU Rennes, Service de Génétique Clinique, CLAD Ouest, F-35033, Rennes, France.
authors.forename: Linda
authors.initials: L
authors.lastname: Akloul
authors.affiliation: CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, F-35033, Rennes, France.
authors.forename: Marion
authors.initials: M
authors.lastname: Beaumont
authors.affiliation: CHU Rennes, Service de Génétique Moléculaire et Génomique, F-35033, Rennes, France.|UMR 6290-Institut de Génétique et Développement, Université de Rennes 1, F-35043, Rennes, France.
authors.forename: Houda
authors.initials: H
authors.lastname: Hamdi-Roze
authors.affiliation: CHU Rennes, Service de Génétique Moléculaire et Génomique, F-35033, Rennes, France.|UMR 6290-Institut de Génétique et Développement, Université de Rennes 1, F-35043, Rennes, France.
authors.forename: Christele
authors.initials: C
authors.lastname: Dubourg
authors.affiliation: CHU Rennes, Service de Génétique Clinique, CLAD Ouest, F-35033, Rennes, France.|UMR 6290-Institut de Génétique et Développement, Université de Rennes 1, F-35043, Rennes, France.
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.affiliation: Département de Gynécologie Obstétrique et Reproduction Humaine, CHU Rennes, F-35033, Rennes, France.
authors.forename: Solène
authors.initials: S
authors.lastname: Duros
authors.affiliation: INSERM U1085-IRSET, Université de Rennes 1, F-35042, Rennes, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Dejucq-Rainsford
authors.affiliation: CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, F-35033, Rennes, France.|UMR 6290-Institut de Génétique et Développement, Université de Rennes 1, F-35043, Rennes, France.
authors.forename: Marc-Antoine
authors.initials: MA
authors.lastname: Belaud-Rotureau
authors.affiliation: INSERM U1085-IRSET, Université de Rennes 1, F-35042, Rennes, France. celia.ravel@chu-rennes.fr.|CHU Rennes, Service de Biologie de la Reproduction CECOS, 16 Bd de Bulgarie, F-35033, Rennes, France. celia.ravel@chu-rennes.fr.
authors.forename: Célia
authors.initials: C
authors.lastname: Ravel
mesh_terms: D000328:Adult; D054304:Anti-Mullerian Hormone / Q000235:genetics / Q000378:metabolism*; D055028:Comparative Genomic Hybridization; D005260:Female; D059247:Fertility Preservation; D005786:Gene Expression Regulation; D006801:Humans; D007247:Infertility, Female / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D018587:Oocyte Donation / Q000379:methods; D010049:Ovarian Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010053:Ovary / Q000254:growth & development / Q000378:metabolism*
chemical_list: D054304:Anti-Mullerian Hormone
keywords: Anti-müllerian hormone; Copy number variations; Genetics of infertility; Ovarian failure