{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T07:59:31Z","timestamp":1789372771191,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2010,11,17]],"date-time":"2010-11-17T00:00:00Z","timestamp":1289952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>CHD6 is an ATP\u2010dependent chromatin\u2010remodeling enzyme, which has been implicated as a crucial component for maintaining and regulating chromatin structure. CHD6 belongs to the largest subfamily, subfamily III (CHD6\u20139), of the chromodomain helicase DNA (CHD\u2010binding protein) family of enzymes (CHD1\u20139). Here we report on a female patient with a balanced translocation t(4;20)(q33;q12) presenting with severe mental retardation and brachydactyly of the toes. We identified the translocation breakpoint in intron 27 of <jats:italic>CHD6<\/jats:italic> at 20q12, while the 4q33 breakpoint was intergenic. Northern blot analysis demonstrated the <jats:italic>CHD6<\/jats:italic> mRNA in the patient's lymphoblastoid cells was decreased to \u223c50% of the control cells. To investigate the cellular mechanism of diseases resulting from decreased CHD subfamily III proteins, we knocked down CHD6 or CHD7 by RNA interference in HeLa cells and analyzed chromosome alignment. The both CHD6\u2010 and CHD7\u2010knockdown cells showed increased frequency of misaligned chromosomes on metaphase plates. Moreover, an elevated frequency of aneuploidy, the major cause of miscarriages and mental retardation, was observed in patients with <jats:italic>CHD6<\/jats:italic> and <jats:italic>CHD7<\/jats:italic> haploinsufficiency. These results suggest that CHD6 and CHD7 play important roles in chromatin assembly during mitosis and that mitotic delay and\/or impaired cell proliferation may be associated with pathogenesis of the diseases caused by <jats:italic>CHD6<\/jats:italic> or <jats:italic>CHD7<\/jats:italic> mutations. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33174","type":"journal-article","created":{"date-parts":[[2010,11,17]],"date-time":"2010-11-17T16:34:27Z","timestamp":1290011667000},"page":"3057-3067","source":"Crossref","is-referenced-by-count":16,"title":["Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation"],"prefix":"10.1002","volume":"152A","author":[{"given":"Kenichiro","family":"Yamada","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daisuke","family":"Fukushi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takao","family":"Ono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Kondo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reiko","family":"Kimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Nomura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken\u2010jiro","family":"Kosaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasukazu","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Mizuno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuaki","family":"Wakamatsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,11,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31395"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30564"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2006.08.008"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32419"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32178"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2006.09.049"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.24.10895-10906.2005"},{"key":"e_1_2_6_9_1","volume-title":"Handbook 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