ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion.

The Journal of Clinical Endocrinology and Metabolism
Tomoshige KinoConstantine A Stratakis

Abstract

Nuclear hormone receptors exert their transcriptional effects through shared cofactor molecules; thus, defects in such intermediate proteins may be associated with multiple hormone resistance. Microdeletion of small chromosomal segments results in hereditary or sporadic diseases by affecting expression of residing genes. We describe a 7-yr-old boy with partial resistance to glucocorticoids, thyroid hormones, and possibly androgens. He was diagnosed as being in the autism spectrum disorder and had developmental delay and several facial morphological manifestations. We explored genes responsible for multiple hormone resistance of this case. We found in this patient an approximately 1.1-Mb heterozygous 16p11.2 microdeletion, which included an approximately 500-kb unique deletion along with the common, previously reported approximately 600-kb 16p11.2 microdeletion. The small interfering RNA-based screening revealed that knockdown of ZNF764, which is located in the deleted segment unique to our case, significantly reduced glucocorticoid-, androgen-, and thyroid hormone-induced transcriptional activity of their responsive genes in HeLa cells, whereas its overexpression enhanced their transcriptional activity. The activities of the es...Continue Reading

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Citations

Oct 1, 2013·Journal of the American College of Cardiology·Roos F MarsmanConnie R Bezzina
Jan 9, 2013·Arquivos brasileiros de endocrinologia e metabologia·Luciana A de A SecchiFrancisco de Assis Rocha Neves
Dec 19, 2014·Pediatric Physical Therapy : the Official Publication of the Section on Pediatrics of the American Physical Therapy Association·Linda Bamonte
Dec 15, 2015·Molecular Endocrinology·Micah J HillTomoshige Kino
Apr 16, 2019·International journal for vitamin and nutrition research. Internationale Zeitschrift für Vitamin- und Ernährungsforschung. Journal international de vitaminologie et de nutrition·Juliana Soares SeveroDilina do Nascimento Marreiro
Feb 6, 2019·Nuclear Receptor Signaling·Rafah MackehTomoshige Kino
May 7, 2020·Case Reports in Pediatrics·Cybil S StinglNatario L Couser
Feb 13, 2018·Proceedings of the National Academy of Sciences of the United States of America·Meade HallerDolores J Lamb
Oct 9, 2020·Journal of Muscle Research and Cell Motility·Kapila AwasthiAlok Bhattacharya

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