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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. Copyright © 2020 Elsevier Masson SAS. All rights reserved.


Lorenzo Allegri, Federica Baldan, Catia Mio, Mario De Felice, Elena Amendola, Giuseppe Damante. BAZ1B is a candidate gene responsible for hypothyroidism in Williams syndrome. European journal of medical genetics. 2020 Jun;63(6):103894

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PMID: 32081709

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