Kerith-Rae Dias, Colleen M Carlston, Laura E R Blok, Lachlan De Hayr, Urwah Nawaz, Carey-Anne Evans, Pinar Bayrak-Toydemir, Stephanie Htun, Ying Zhu, Alan Ma, Sally Ann Lynch, Catherine Moorwood, Karen Stals, Sian Ellard, Matthew N Bainbridge, Jennifer Friedman, John G Pappas, Rachel Rabin, Catherine B Nowak, Jessica Douglas, Theodore E Wilson, Maria J Guillen Sacoto, Sureni V Mullegama, Timothy Blake Palculict, Edwin P Kirk, Jason R Pinner, Matthew Edwards, Francesca Montanari, Claudio Graziano, Tommaso Pippucci, Bri Dingmann, Ian Glass, Heather C Mefford, Takeyoshi Shimoji, Toshimitsu Suzuki, Kazuhiro Yamakawa, Haley Streff, Christian P Schaaf, Anne M Slavotinek, Irina Voineagu, John C Carey, Michael F Buckley, Annette Schenck, Robert J Harvey, Tony Roscioli
PURPOSE: ZMYND8 encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of super-enhancers, DNA damage response and tumor suppression. We delineate a novel neurocognitive disorder caused by variants in the ZMYND8 gene. METHODS: An international collaboration, exome sequencing, molecular modeling, yeast two-hybrid assays, analysis of available transcriptomic data and a knockdown Drosophila model were used to characterize the ZMYND8 variants...
August 1, 2022: Genetics in Medicine: Official Journal of the American College of Medical Genetics