{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T06:27:57Z","timestamp":1791095277155,"version":"4.1.0"},"reference-count":68,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2011,2,8]]},"published-print":{"date-parts":[[2011,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      CHARGE syndrome is a highly variable, multiple congenital anomaly syndrome, of which the complete phenotypic spectrum was only revealed after identification of the causative gene in 2004. CHARGE is an acronym for ocular\n                      <jats:underline>c<\/jats:underline>\n                      oloboma, congenital\n                      <jats:underline>h<\/jats:underline>\n                      eart defects, choanal\n                      <jats:underline>a<\/jats:underline>\n                      tresia,\n                      <jats:underline>r<\/jats:underline>\n                      etardation of growth and development,\n                      <jats:underline>g<\/jats:underline>\n                      enital hypoplasia, and\n                      <jats:underline>e<\/jats:underline>\n                      ar anomalies associated with deafness. This typical combination of clinical features is caused by autosomal dominant mutations in the\n                      <jats:italic>CHD7<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To explore the emerging phenotypic spectrum of\n                      <jats:italic>CHD7<\/jats:italic>\n                      mutations, with a special focus on the mild end of the spectrum.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We evaluated the clinical characteristics in our own cohort of 280\n                      <jats:italic>CHD7<\/jats:italic>\n                      positive patients and in previously reported patients with\n                      <jats:italic>CHD7<\/jats:italic>\n                      mutations and compared these with previously reported patients with CHARGE syndrome but an unknown\n                      <jats:italic>CHD7<\/jats:italic>\n                      status. We then further explored the mild end of the phenotypic spectrum of\n                      <jats:italic>CHD7<\/jats:italic>\n                      mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We discuss that CHARGE syndrome is primarily a clinical diagnosis. In addition, we propose guidelines for\n                      <jats:italic>CHD7<\/jats:italic>\n                      analysis and indicate when evaluation of the semicircular canals is helpful in the diagnostic process. Finally, we give updated recommendations for clinical surveillance of patients with a\n                      <jats:italic>CHD7<\/jats:italic>\n                      mutation, based on our exploration of the phenotypic spectrum and on our experience in a multidisciplinary outpatient clinic for CHARGE syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      CHARGE syndrome is an extremely variable clinical syndrome.\n                      <jats:italic>CHD7<\/jats:italic>\n                      analysis can be helpful in the diagnostic process, but the phenotype cannot be predicted from the genotype.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg.2010.087106","type":"journal-article","created":{"date-parts":[[2011,3,5]],"date-time":"2011-03-05T20:14:05Z","timestamp":1299356045000},"page":"334-342","source":"Crossref","is-referenced-by-count":291,"title":["<i>CHD7<\/i>\n                    mutations and CHARGE syndrome: the clinical implications of an expanding phenotype"],"prefix":"10.1136","volume":"48","author":[{"given":"J E H","family":"Bergman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Janssen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L H","family":"Hoefsloot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M C J","family":"Jongmans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R M W","family":"Hofstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C M A","family":"van Ravenswaaij-Arts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2011,3,4]]},"reference":[{"key":"2025101722312536000_48.5.334.1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5234.1212"},{"key":"2025101722312536000_48.5.334.2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.2.5251.586-b"},{"key":"2025101722312536000_48.5.334.3","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80513-2"},{"key":"2025101722312536000_48.5.334.4","doi-asserted-by":"crossref","first-page":"122","DOI":"10.3928\/0191-3913-19790301-10","article-title":"Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation\u2013a syndrome","volume":"16","author":"Hittner","year":"1979","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"2025101722312536000_48.5.334.5","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80454-4"},{"key":"2025101722312536000_48.5.334.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"2025101722312536000_48.5.334.7","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/ajmg.a.30560","article-title":"An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study","volume":"133","author":"Issekutz","year":"2005","journal-title":"Am J Med Genet A"},{"key":"2025101722312536000_48.5.334.8","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201778"},{"key":"2025101722312536000_48.5.334.9","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"2025101722312536000_48.5.334.10","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/ajmg.a.30559","article-title":"Updated diagnostic criteria for CHARGE syndrome: a proposal","volume":"133","author":"Verloes","year":"2005","journal-title":"Am J Med Genet A"},{"key":"2025101722312536000_48.5.334.11","unstructured":"Lalani SR Hefner MA Belmont JW Davenport SLH . 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CHARGE syndrome: genotype-phenotype correlations and mutational hot-spots at the CHD7 locus. Poster Presented as Part of the American Society of Human Genetics conference, New Orleans, Louisiana, USA, 9\u201313 October 2006. 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