SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

Autor: Al-Jawahiri R; Department of Psychology, The University of Sheffield, Sheffield, United Kingdom., Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; The Archie and Irene Verspeeten Clinical Genome Centre, London Health Sciences Foundation, London Health Sciences Centre, London, Ontario, Canada., Kerkhof J; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; The Archie and Irene Verspeeten Clinical Genome Centre, London Health Sciences Foundation, London Health Sciences Centre, London, Ontario, Canada., McConkey H; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; The Archie and Irene Verspeeten Clinical Genome Centre, London Health Sciences Foundation, London Health Sciences Centre, London, Ontario, Canada., Levy M; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; The Archie and Irene Verspeeten Clinical Genome Centre, London Health Sciences Foundation, London Health Sciences Centre, London, Ontario, Canada., Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; The Archie and Irene Verspeeten Clinical Genome Centre, London Health Sciences Foundation, London Health Sciences Centre, London, Ontario, Canada., Rooney K; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; The Archie and Irene Verspeeten Clinical Genome Centre, London Health Sciences Foundation, London Health Sciences Centre, London, Ontario, Canada., Turner J; Biosciences Institute, Newcastle University, Newcastle Upon Tyne, United Kingdom., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Holder M; Department of Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom., Lefroy H; Peninsula Clinical Genetics Service, RD&E Heavitree Hospital, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Castle B; Peninsula Clinical Genetics Service, RD&E Heavitree Hospital, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Reis LM; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Children's Wisconsin, Milwaukee, WI., Semina EV; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Children's Wisconsin, Milwaukee, WI., Lachlan K; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, United Kingdom., Chandler K; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Wright T; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Clayton-Smith J; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom., Hug FP; Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne, Switzerland., Pitteloud N; Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne, Switzerland., Bartoloni L; Service of Endocrinology, Diabetology, and Metabolism, Lausanne University Hospital, Lausanne, Switzerland., Hoffjan S; Ruhr-Universitat Bochum, Abteilung für Humangenetik, Bochum, Germany., Park SM; Clinical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Thankamony A; Clinical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Lees M; Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Wakeling E; Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom., Naik S; West Midlands Regional Clinical Genetics Centre and Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Hanker B; Ambulanzzentrum UKSH, Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Agolini E; Medical Genetics Laboratory, Bambino Gesu Children's Hospital, Rome, Italy., Giuseppe Z; Paediatric Department, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy., Alban Z; Angers University Hospital Center, Angers, France., Tessarech M; Angers University Hospital Center, Angers, France., Keren B; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Afenjar A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Reis A; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Smol T; EA7364 RADEME, Institute of Medical Genetics, Lille University Hospital, Lille University, Lille, France., Tsurusaki Y; Faculty of Nutritional Science, Sagami Women's University, Sagamihara, Japan., Nobuhiko O; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan., Sekiguchi F; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan., Tsuchida N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan., Kou I; Laboratory for Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan., Yonezawa Y; Laboratory for Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan; Department of Orthopedic Surgery, Keio University School of Medicine, Keio University, Tokyo, Japan., Ikegawa S; Laboratory for Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan., Callewaert B; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent, Belgium., Freeth M; Department of Psychology, The University of Sheffield, Sheffield, United Kingdom., Kleinendorst L; Centrum voor Medische Genetica - UZ Gent, Ghent University Hospital, Gent, Belgium., Donaldson A; Department of Clinical Genetics Service, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom., Alders M; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., De Paepe A; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium., Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada. Electronic address: Bekim.Sadikovic@lhsc.on.ca., McNeill A; Department of Neuroscience, The Medical School, The University of Sheffield, Sheffield, United Kingdom; Department of Clinical Genetics, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, United Kingdom. Electronic address: a.mcneill@sheffield.ac.uk.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Jun; Vol. 24 (6), pp. 1261-1273. Date of Electronic Publication: 2022 Mar 24.