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<publisher>HAL CCSD</publisher>
<title lang=en>Array-CGH diagnosis in ovarian failure: identification of new molecular actors for ovarian physiology</title>
<creator>Jaillard, Sylvie</creator>
<creator>Akloul, Linda</creator>
<creator>Beaumont, Marion</creator>
<creator>Hamdi-Rozé, Houda</creator>
<creator>Dubourg, Christèle</creator>
<creator>Odent, Sylvie</creator>
<creator>Duros, Solène</creator>
<creator>Dejucq-Rainsford, Nathalie</creator>
<creator>Belaud-Rotureau, Marc-Antoine</creator>
<creator>Ravel, Célia</creator>
<contributor>Institut de recherche, santé, environnement et travail [Rennes] (Irset) ; Université d'Angers (UA) - Université des Antilles et de la Guyane (UAG) - Université de Rennes 1 (UR1) - École des Hautes Études en Santé Publique [EHESP] (EHESP) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )</contributor>
<contributor>Service de Cytogénétique et de Biologie Cellulaire ; Université de Rennes 1 (UR1) - Hôpital Pontchaillou - CHU Pontchaillou [Rennes]</contributor>
<contributor>Service de génétique clinique [Rennes] ; Université de Rennes 1 (UR1) - CHU Pontchaillou [Rennes] - Hôpital Sud</contributor>
<contributor>Institut de Génétique et Développement de Rennes (IGDR) ; Université de Rennes 1 (UR1) - Centre National de la Recherche Scientifique (CNRS) - Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )</contributor>
<contributor>Service de biologie moléculaire ; Hôpital Pontchaillou</contributor>
<contributor>CHU Pontchaillou [Rennes]</contributor>
<description>International audience</description>
<source>ISSN: 1757-2215</source>
<source>Journal of Ovarian Research</source>
<publisher>BioMed Central</publisher>
<identifier>hal-01390979</identifier>
<identifier>https://hal-univ-rennes1.archives-ouvertes.fr/hal-01390979</identifier>
<source>https://hal-univ-rennes1.archives-ouvertes.fr/hal-01390979</source>
<source>Journal of Ovarian Research, BioMed Central, 2016, 9, pp.63. 〈10.1186/s13048-016-0272-5〉</source>
<identifier>DOI : 10.1186/s13048-016-0272-5</identifier>
<relation>info:eu-repo/semantics/altIdentifier/doi/10.1186/s13048-016-0272-5</relation>
<identifier>PUBMED : 27716277</identifier>
<relation>info:eu-repo/semantics/altIdentifier/pmid/27716277</relation>
<language>en</language>
<subject lang=en> variants</subject>
<subject lang=en> mutations</subject>
<subject lang=en> menopause</subject>
<subject lang=en>microtubule dynamics</subject>
<subject lang=en> linkage analysis</subject>
<subject lang=en> genes</subject>
<subject lang=en> insufficiency</subject>
<subject lang=en> reveals</subject>
<subject lang=en> spindle</subject>
<subject lang=en> clasp1</subject>
<subject>[SDV.EE.SANT] Life Sciences [q-bio]/Ecology, environment/Health</subject>
<type>info:eu-repo/semantics/article</type>
<type>Journal articles</type>
<description lang=en>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-Mullerian 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.</description>
<date>2016</date>
</dc>
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