Monoallelic loss-of-function variants in GSK3Blead to autism and developmental delay

Autor: Tan, Senwei, Zhang, Qiumeng, Zhan, Rui, Luo, Si, Han, Yaoling, Yu, Bin, Muss, Candace, Pingault, Veronique, Marlin, Sandrine, Delahaye, Andrée, Peters, Sophia, Perne, Claudia, Kreiß, Martina, Spataro, Nino, Trujillo-Quintero, Juan Pablo, Racine, Caroline, Tran-Mau-Them, Frederic, Phornphutkul, Chanika, Besterman, Aaron D., Martinez, Julian, Wang, Xiuxia, Tian, Xiaoyu, Srivastava, Siddharth, Urion, David K., Madden, Jill A., Saif, Hind Al, Morrow, Michelle M., Begtrup, Amber, Li, Xing, Jurgensmeyer, Sarah, Leahy, Peter, Zhou, Shimin, Li, Faxiang, Hu, Zhengmao, Tan, Jieqiong, Xia, Kun, Guo, Hui

Publikováno v: Molecular Psychiatry; 20240101, Issue: Preprints p1-14, 14p

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.

Autor: Tan S; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Zhang Q; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Zhan R; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Luo S; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Han Y; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Yu B; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Muss C; Department of Genetics, Nemours Children's Hospital, Wilmington, DE, USA., Pingault V; Service de Médecine Génomique des maladies rares, AP-HP, Hôpital Necker; Université Paris Cité, Inserm, Institut Imagine; and Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Marlin S; Centre de Référence «Surdités Génétiques», Fédération de Génétique; Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris, Paris, France.; Laboratory of Embryology and Genetics of Malformations, Imagine Institute, INSERM UMR 1163, Université de Paris, Paris, France., Delahaye A; Service de Médecine Génomique des maladies rares, AP-HP, Hôpital Necker; Université Paris Cité, Inserm, Institut Imagine; and Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Peters S; Institute of Human Genetics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany., Perne C; Institute of Human Genetics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany., Kreiß M; Institute of Human Genetics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany., Spataro N; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain., Trujillo-Quintero JP; Center for Genomic Medicine, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí (I3PT-CERCA), Universitat Autònoma de Barcelona, Sabadell, Spain., Racine C; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Tran-Mau-Them F; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital, Providence, RI, USA., Besterman AD; Department of Psychiatry, University of California San Diego School of Medicine, La Jolla, CA, USA.; Rady Children's Hospital, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Martinez J; Departments of Human Genetics, Pediatrics and Psychiatry, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Wang X; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China., Tian X; Department of Pediatrics, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China., Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Harvard University, Boston, MA, USA., Urion DK; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Harvard University, Boston, MA, USA., Madden JA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Saif HA; Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Virginia Commonwealth, Richmond, VA, USA., Morrow MM; GeneDx, Gaithersburg, MD, USA., Begtrup A; GeneDx, Gaithersburg, MD, USA., Li X; Departments of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi Zhuang Autonomous Region, China., Jurgensmeyer S; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, USA., Leahy P; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, USA., Zhou S; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Li F; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Hu Z; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Tan J; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China., Xia K; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China. xiakun@sklmg.edu.cn.; MOE Key Lab of Rare Pediatric Diseases, School of Basic Medicine, Hengyang Medical College, University of South China, Hengyang, Hunan, China. xiakun@sklmg.edu.cn.; Furong Laboratory, Changsha, Hunan, China. xiakun@sklmg.edu.cn., Guo H; Center for Medical Genetics & MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, Hunan, China. guohui@sklmg.edu.cn.; Furong Laboratory, Changsha, Hunan, China. guohui@sklmg.edu.cn.

Publikováno v: Molecular psychiatry [Mol Psychiatry] 2024 Oct 29. Date of Electronic Publication: 2024 Oct 29.