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This important complex is composed of seven different proteins, with mutations in <jats:italic>CHD3<\/jats:italic>, <jats:italic>CHD4<\/jats:italic>, and <jats:italic>GATAD2B<\/jats:italic> being associated with neurodevelopmental disorders presenting with macrocephaly and intellectual disability similar to other overgrowth and intellectual disability (OGID) syndromes. Pathogenic variants in <jats:italic>CHD3<\/jats:italic> and <jats:italic>CHD4<\/jats:italic> primarily involve disruption of enzymatic function. <jats:italic>GATAD2B<\/jats:italic> variants include loss\u2010of\u2010function mutations that alter protein dosage and missense variants that involve either of two conserved domains (CR1 and CR2) known to interact with other NuRD proteins. In addition to macrocephaly and intellectual disability, <jats:italic>CHD3<\/jats:italic> variants are associated with inguinal hernias and apraxia of speech; whereas <jats:italic>CHD4<\/jats:italic> variants are associated with skeletal anomalies, deafness, and cardiac defects. GATAD2B\u2010associated neurodevelopmental disorder (GAND) has phenotypic overlap with both of these disorders. Of note, structural models of NuRD indicate that CHD3 and CHD4 require direct contact with the GATAD2B\u2010CR2 domain to interact with the rest of the complex. Therefore, the phenotypic overlaps of CHD3\u2010 and CHD4\u2010related disorders with GAND are consistent with a loss in the ability of GATAD2B to recruit CHD3 or CHD4 to the complex. The shared features of these neurodevelopmental disorders may represent a new class of OGID syndrome: the NuRDopathies.<\/jats:p>","DOI":"10.1002\/ajmg.c.31752","type":"journal-article","created":{"date-parts":[[2019,11,18]],"date-time":"2019-11-18T12:00:26Z","timestamp":1574078426000},"page":"548-556","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":44,"title":["The NuRD complex and macrocephaly associated neurodevelopmental disorders"],"prefix":"10.1002","volume":"181","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1985-3671","authenticated-orcid":false,"given":"Tyler Mark","family":"Pierson","sequence":"first","affiliation":[{"name":"Department of Pediatrics Cedars\u2010Sinai Medical Center  Los Angeles California"},{"name":"Department of Neurology Cedars\u2010Sinai Medical Center  Los Angeles California"},{"name":"Board of Governors Regenerative Medicine Institute Cedars\u2010Sinai Medical Center  Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6263-2466","authenticated-orcid":false,"given":"Maria G.","family":"Otero","sequence":"additional","affiliation":[{"name":"Board of Governors Regenerative Medicine Institute Cedars\u2010Sinai Medical Center  Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katheryn","family":"Grand","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical Genetics Cedars\u2010Sinai Medical Center  Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Choi","sequence":"additional","affiliation":[{"name":"Board of Governors Regenerative Medicine Institute Cedars\u2010Sinai Medical Center  Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr","given":"John M.","family":"Graham","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical Genetics Cedars\u2010Sinai Medical Center  Los Angeles California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan I.","family":"Young","sequence":"additional","affiliation":[{"name":"John P. 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