{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:13:45Z","timestamp":1791296025066,"version":"4.1.0"},"reference-count":31,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and\/or development, genital anomalies, and ear anomalies. This set of multiple congenital anomalies is frequent, despite rare patients with normal intelligence, and prognosis remains poor. Recently, <jats:italic>CHD7<\/jats:italic> gene mutations have been identified in CHARGE patients; however, the function of CHD7 during development remains unknown.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> We studied a series of 10 antenatal cases in whom the diagnosis of CHARGE syndrome was suspected, considering that a careful pathological description would shed light on the <jats:italic>CHD7<\/jats:italic> function during development. <jats:italic>CHD7<\/jats:italic> sequence analysis and in situ hybridisation were employed.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> The diagnosis of CHARGE syndrome was confirmed in all 10 fetuses by the identification of a <jats:italic>CHD7<\/jats:italic> heterozygous truncating mutation. Interestingly, arhinencephaly and semi-circular canal agenesis were two constant features which are not included in formal diagnostic criteria so far. In situ hybridisation analysis of the <jats:italic>CHD7<\/jats:italic> gene during early human development emphasised the role of <jats:italic>CHD7<\/jats:italic> in the development of the central nervous system, internal ear, and neural crest of pharyngeal arches, and more generally showed a good correlation between specific <jats:italic>CHD7<\/jats:italic> expression pattern and the developmental anomalies observed in CHARGE syndrome.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusions:<\/jats:bold> These results allowed us to further refine the phenotypic spectrum of developmental anomalies resulting from <jats:italic>CHD7<\/jats:italic> dysfunction.<\/jats:p>","DOI":"10.1136\/jmg.2005.036160","type":"journal-article","created":{"date-parts":[[2005,9,16]],"date-time":"2005-09-16T20:33:36Z","timestamp":1126902816000},"page":"211-317","source":"Crossref","is-referenced-by-count":203,"title":["Phenotypic spectrum of CHARGE syndrome in fetuses with <i>CHD7<\/i> 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