{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T19:53:28Z","timestamp":1789847608953,"version":"4.0.1"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,11,8]],"date-time":"2013-11-08T00:00:00Z","timestamp":1383868800000},"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":[[2014,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>CHARGE syndrome is an autosomal dominant malformation syndrome associated with mutations in <jats:italic>CHD7<\/jats:italic>. The condition is typically sporadic with few familial cases reported. The diagnosis of CHARGE syndrome is based on a combination of major and minor criteria comprised of structural and functional abnormalities, most of which are part of the original CHARGE acronym, although additional anomalies have been added. To date, family history has not been considered in the diagnostic criteria. Here we report a family with a previously unreported missense mutation in exon 31 of <jats:italic>CHD7<\/jats:italic>, in which family history played a role in the diagnosis of CHARGE syndrome. Given the tremendous phenotypic variability and the dominant nature of CHARGE syndrome, we propose that family history be included as a major diagnostic criterion. A positive family history would include any individual with an apparently isolated unilateral major CHARGE anomaly or someone with a few of the minor features. Our cases support this proposal; had family history not been considered in this case, <jats:italic>CHD7<\/jats:italic> testing might not have been pursued, leading to incomplete medical follow\u2010up and erroneous genetic counseling. Additionally, with the increased incidence of orofacial clefting in this family, as well as in the literature, we suggest that cleft lip and\/or palate be added to the major diagnostic criteria for CHARGE syndrome. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36192","type":"journal-article","created":{"date-parts":[[2013,11,8]],"date-time":"2013-11-08T21:56:41Z","timestamp":1383947801000},"page":"48-53","source":"Crossref","is-referenced-by-count":12,"title":["Family history and clefting as major criteria for CHARGE syndrome"],"prefix":"10.1002","volume":"164","author":[{"given":"Susan Starling","family":"Hughes","sequence":"first","affiliation":[{"name":"The Children's Mercy Hospitals and Clinics Genetics Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly I.","family":"Welsh","sequence":"additional","affiliation":[{"name":"The Children's Mercy Hospitals and Clinics Genetics Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole P.","family":"Safina","sequence":"additional","affiliation":[{"name":"The Children's Mercy Hospitals and Clinics Genetics Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khemissa","family":"Bejaoui","sequence":"additional","affiliation":[{"name":"Prevention Genetics Marshfield Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holly H.","family":"Ardinger","sequence":"additional","affiliation":[{"name":"The Children's Mercy Hospitals and Clinics Genetics Kansas City Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,11,8]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010301)99:2<124::AID-AJMG1114>3.0.CO;2-9"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.10.044"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-012-0107-z"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087106"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22106"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-34"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00821.x"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80513-2"},{"key":"e_1_2_4_11_1","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\u2014a syndrome","volume":"16","author":"Hittner HM","year":"1979","journal-title":"J Pediatr Ophthalmol Strabismus"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30560"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036061"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31921"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01107.x"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/500273"},{"key":"e_1_2_4_17_1","unstructured":"LelaniSR HefnerMA BelmontJW DavenportS. CHARGE Syndrome. 2006.Oct 2 [Updated. 2012 Feb 2]. In: Pagon RA Adam MP Bird TD et al. editors. GeneReviews\u2122 [Internet]. Seattle (WA): University of Washington Seattle; 1993\u20132013. Available from:http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1117\/."},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072785"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.3121\/cmr.4.2.123"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30559"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33323"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36192","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36192","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T01:34:09Z","timestamp":1696556049000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36192"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,8]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["10.1002\/ajmg.a.36192"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36192","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,8]]}}}