BAZ1B is a candidate gene responsible for hypothyroidism in Williams syndrome |
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| Affiliation: | 1. Centre for Clinical Research in Neuropsychiatry, Division of Psychiatry, Faculty of Health and Medical Sciences, The University of Western Australia, Medical Research Foundation Building, Perth, WA 6000, Australia;2. Black Dog Institute, University of New South Wales, Sydney, NSW, Australia;3. Neuropsychiatric Epidemiology Research Unit, Division of Psychiatry, Faculty of Health and Medical Sciences, The University of Western Australia, Medical Research Foundation Building, Perth, WA 6000, Australia;4. Cardiometabolic Service, Department of Cardiology, Royal Perth Hospital, Perth, WA 6000, Australia;5. St Vincent''s Hospital, Melbourne, VIC, Australia;6. National Centre for Register-based Research, Aarhus BSS, Aarhus University, 8000 Aarhus C, Denmark;7. Centre for Mental Health, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia;8. School of Medicine, Faculty of Health and Medical Sciences, The University of Western Australia, Medical Research Foundation Building, Perth, WA 6000, Australia;9. Department of Psychiatry, The University of Melbourne, Melbourne, VIC 3052, Australia;10. Queensland Brain Institute, University of Queensland, Brisbane, QLD 4072, Australia;1. Department of Genetic Metabolism, Children''s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People''s Republic of China;2. GuangXi Center for Birth Defects Research and Prevention, Nanning 530003, People''s Republic of China;3. Endocrinology and Genetic Metabolism of Institute for Pediatric Research, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092,China;1. Medical Science Laboratory, Children''s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People''s Republic of China;2. Department of Genetic Metabolism, Children''s Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People''s Republic of China;3. Division of Genetics and Genomics, Boston Children''s Hospital and Harvard Medical School, Boston, MA 02115, USA;4. The Manton Center for Orphan Disease Research, Boston Children''s Hospital and Harvard Medical School, Boston, MA 02115, USA;5. Division of Newborn Medicine, Boston Children''s Hospital and Harvard Medical School, Boston, MA 02115, USA |
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| Abstract: | ![]()
Williams syndrome (WS) is a rare neurodevelopmental disorder associated to a hemizygous deletion of 28 genes located on chromosome 7q11.23. WS affected subjects frequently suffer from several endocrine abnormalities including hypothyroidism due to defects in thyroid morphology. To date, several genes involved in thyroid dysgenesis have been identified, nonetheless, none of them is located in the 7q11.23 region. Thus, the hypothyroidism-linked molecular features in WS are not yet known. In this study we focused on one of the WS deleted gene, BAZ1B, demonstrating that its downregulation in thyroid cells leads to cell viability and survival decrement. Taking together, our results show that BAZ1B could be the mainly responsible for thyroid defects observed in some of WS patients and that these alterations are activated by PTEN-mediated mechanisms. |
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| Keywords: | Williams syndrome BAZ1B Hypothyroidism |
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