Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

Author:

Portnoi Marie-France12,Dumargne Marie-Charlotte3,Rojo Sandra3,Witchel Selma F4,Duncan Andrew J5,Eozenou Caroline3,Bignon-Topalovic Joelle3,Yatsenko Svetlana A678,Rajkovic Aleksandar678,Reyes-Mugica Miguel678,Almstrup Kristian9ORCID,Fusee Leila3,Srivastava Yogesh101112,Chantot-Bastaraud Sandra12,Hyon Capucine12,Louis-Sylvestre Christine13,Validire Pierre14,de Malleray Pichard Caroline15,Ravel Celia16,Christin-Maitre Sophie217,Brauner Raja18,Rossetti Raffaella1920,Persani Luca1920ORCID,Charreau Eduardo H2122,Dain Liliana2122,Chiauzzi Violeta A2122,Mazen Inas23,Rouba Hassan24,Schluth-Bolard Caroline25,MacGowan Stuart26,McLean W H Irwin26,Patin Etienne27,Rajpert-De Meyts Ewa9,Jauch Ralf101112,Achermann John C5,Siffroi Jean-Pierre12,McElreavey Ken3,Bashamboo Anu3

Affiliation:

1. APHP Département de Génétique Médicale, Hôpital Armand Trousseau, Paris 75012, France

2. UPMC, University Paris 06, INSERM UMR_S933, Hôpital Armand Trousseau, Paris 75012, France

3. Human Developmental Genetics, CNRS UMR3738, Institut Pasteur, Paris 75724, France

4. Division of Pediatric Endocrinology, Children’s Hospital of Pittsburgh of UPMC, Pittsburgh, PA 15224, USA

5. Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK

6. Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Women’s Research Institute

7. Department of Human Genetics, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA

8. Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA

9. University Department of Growth and Reproduction, Rigshospitalet, DK-2100 Copenhagen, Denmark

10. Genome Regulation Laboratory, Drug Discovery Pipeline, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China

11. Key Laboratory of Regenerative Biology, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China

12. Guangdong Provincial Key Laboratory of Stem Cell and Regenerative Medicine, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou 510530, China

13. Département Mère-Enfant, Institut Mutualiste Montsouris, Paris 75014, France

14. Département d’Anatomie Pathologique, Institut Mutualiste Montsouris, Paris 75014, France

15. Service d’Endocrinologie, Hôpital Cochin, Paris, France

16. Biology of Reproduction, CHU Rennes, Rennes 35033, France

17. Service d'Endocrinologie, Diabétologie et Endocrinologie de la Reproduction, Hôpital Saint-Antoine, Paris 75012, France

18. Université Paris Descartes and Pediatric Endocrinology Unit, Fondation Ophtalmologique Adolphe de Rothschild, Paris 75019, France

19. Department of Clinical Sciences & Community Health, University of Milan, Milan 20122, Italy

20. Laboratory of Endocrine & Metabolic Research and Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy

21. Centro Nacional de Genética Médica, Administración Nacional de Laboratorios e Institutos de Salud (ANLIS) Dr. Carlos G. Malbrán, Buenos Aires C1428ADN, Argentina

22. Department of Physiology, Instituto de Biología y Medicina Experimental, Consejo Nacional de Investigaciones Científicas y Técnicas (IBYME-CONICET), Buenos Aires C1428ADN, Argentina

23. Department of Clinical Genetics, National Research Centre, Cairo 12622, Egypt

24. Human Genetics Unit, Institut Pasteur of Morocco, Casablanca 20250, Morocco

25. Genetic Services, Hopital Femme Mere Enfant, Bron 69677, France

26. Centre for Dermatology and Genetic Medicine, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK

27. Human Evolutionary Genetics, Institut Pasteur, Paris 75724, France

Funder

National Natural Science Foundation of China

MRC

Wellcome Trust

University College London

Agence Nationale de la Recherche

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

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