{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:36:16Z","timestamp":1791081376650,"version":"4.1.0"},"reference-count":54,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2008,4,3]],"date-time":"2008-04-03T00:00:00Z","timestamp":1207180800000},"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":[[2008,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Herein we characterize an apparently balanced de novo translocation, t(X;15)(p22.2;q26.1)dn, in a female patient with scoliosis, hirsutism, learning problems, and developmental delay (DGAP025). Other clinical findings include a high\u2010arched palate, 2\u20133 syndactyly of the toes, and mildly elevated serum testosterone. No known or predicted genes are disrupted by the Xp22.2 breakpoint. The 15q26.1 breakpoint disrupts chromodomain helicase DNA binding protein 2 (<jats:italic>CHD2<\/jats:italic>). Another member of the chromatin\u2010remodeling gene family, <jats:italic>CHD7<\/jats:italic>, has been associated with a defined constellation of congenital anomalies known as <jats:italic>c<\/jats:italic>oloboma, <jats:italic>h<\/jats:italic>eart anomaly, choanal <jats:italic>a<\/jats:italic>tresia, mental <jats:italic>r<\/jats:italic>etardation, <jats:italic>g<\/jats:italic>enital and <jats:italic>e<\/jats:italic>ar anomalies syndrome (CHARGE) and idiopathic scoliosis. Monosomy of 15q26 also has been associated with a spectrum of congenital abnormalities and growth retardation that overlaps with those of DGAP025. To provide a biological correlate, we characterized a mutant mouse model with <jats:italic>Chd2<\/jats:italic> disruption that is associated with embryonic and perinatal lethality. Expression analysis indicated that <jats:italic>Chd2<\/jats:italic> is expressed in the heart, forebrain, extremities, facial and dorsal regions during specific times of embryonic development. <jats:italic>Chd2<\/jats:italic><jats:sup><jats:italic>+<\/jats:italic>\/<jats:italic>m<\/jats:italic><\/jats:sup> mice showed pronounced lordokyphosis, reduced body fat, postnatal runting, and growth retardation. These data suggest that haploinsufficiency for <jats:italic>CHD2<\/jats:italic> could result in a complex of abnormal human phenotypes that includes scoliosis and possibly features similar to CHARGE syndrome. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32178","type":"journal-article","created":{"date-parts":[[2008,4,3]],"date-time":"2008-04-03T21:16:50Z","timestamp":1207257410000},"page":"1117-1127","source":"Crossref","is-referenced-by-count":62,"title":["Disruption of chromodomain helicase DNA binding protein 2 (<i>CHD2<\/i>) causes 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