{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T10:52:48Z","timestamp":1790938368966,"version":"4.1.0"},"reference-count":30,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"23","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation"],"published-print":{"date-parts":[[1999,6,15]]},"abstract":"<jats:p>\n            <jats:italic>Background<\/jats:italic>\n            \u2014Patent ductus arteriosus (PDA) is a relatively common form of congenital heart disease. Although polygenic inheritance has been implicated, no specific gene defects causing PDA have been identified to date. Thus, a positional cloning strategy was undertaken to determine the gene responsible for the Char syndrome, an autosomal dominant disorder characterized by PDA, facial dysmorphism, and hand anomalies.\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Methods and Results<\/jats:italic>\n            \u2014A genome scan was performed with 46 members of 2 unrelated families in which the disease was fully penetrant but the phenotype differed. Significant linkage was achieved with several polymorphic DNA markers mapping to chromosome 6p12-p21 (maximal 2-point LOD score of 8.39 with D6S1638 at \u03b8=0.00). Haplotype analysis identified recombinant events that defined the Char syndrome locus with high probability to a 3.1-cM region between D6S459\/D6S1632\/D6S1541 and D6S1024.\n          <\/jats:p>\n          <jats:p>\n            <jats:italic>Conclusions<\/jats:italic>\n            \u2014A familial syndrome in which PDA is a common feature was mapped to a narrow region of chromosome 6p12-p21. Additional analysis with other families and polymorphic markers as well as evaluation of potential candidate genes should lead to the identification of the Char syndrome gene, which will provide insights into cardiogenesis as well as limb and craniofacial development.\n          <\/jats:p>","DOI":"10.1161\/01.cir.99.23.3036","type":"journal-article","created":{"date-parts":[[2012,6,12]],"date-time":"2012-06-12T00:42:29Z","timestamp":1339461749000},"page":"3036-3042","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":63,"title":["Char Syndrome, an Inherited Disorder With Patent Ductus Arteriosus, Maps to Chromosome 6p12-p21"],"prefix":"10.1161","volume":"99","author":[{"given":"Masahiko","family":"Satoda","sequence":"first","affiliation":[{"name":"From the Division of Pediatric Cardiology (M.S., B.D.G.) and Department of Human Genetics (G.A.D., B.D.G.), Mount Sinai School of Medicine, New York, NY; Department of Pediatrics (M.E.M.P.), University of Minnesota, Minneapolis, Minn; and Department of Pediatrics (R.A.B.), Arkansas Children\u2019s Hospital, Little Rock, Ark."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Ella M.","family":"Pierpont","sequence":"additional","affiliation":[{"name":"From the Division of Pediatric Cardiology (M.S., B.D.G.) and Department of Human Genetics (G.A.D., B.D.G.), Mount Sinai School of Medicine, New York, NY; Department of Pediatrics (M.E.M.P.), University of Minnesota, Minneapolis, Minn; and Department of Pediatrics (R.A.B.), Arkansas Children\u2019s Hospital, Little Rock, Ark."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George A.","family":"Diaz","sequence":"additional","affiliation":[{"name":"From the Division of Pediatric Cardiology (M.S., B.D.G.) and Department of Human Genetics (G.A.D., B.D.G.), Mount Sinai School of Medicine, New York, NY; Department of Pediatrics (M.E.M.P.), University of Minnesota, Minneapolis, Minn; and Department of Pediatrics (R.A.B.), Arkansas Children\u2019s Hospital, Little Rock, Ark."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renee A.","family":"Bornemeier","sequence":"additional","affiliation":[{"name":"From the Division of Pediatric Cardiology (M.S., B.D.G.) and Department of Human Genetics (G.A.D., B.D.G.), Mount Sinai School of Medicine, New York, NY; Department of Pediatrics (M.E.M.P.), University of Minnesota, Minneapolis, Minn; and Department of Pediatrics (R.A.B.), Arkansas Children\u2019s Hospital, Little Rock, Ark."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce D.","family":"Gelb","sequence":"additional","affiliation":[{"name":"From the Division of Pediatric Cardiology (M.S., B.D.G.) and Department of Human Genetics (G.A.D., B.D.G.), Mount Sinai School of Medicine, New York, NY; Department of Pediatrics (M.E.M.P.), University of Minnesota, Minneapolis, Minn; and Department of Pediatrics (R.A.B.), Arkansas Children\u2019s Hospital, Little Rock, Ark."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-2952(94)90552-5"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(85)80178-9"},{"key":"e_1_3_2_3_2","unstructured":"Mullins CE Pagotto L. Patent ductus arteriosus. In: Garson AJ Bricker JT Fisher DJ Neish SR eds. The Science and Practice of Pediatric Cardiology. Baltimore Md: Williams & Wilkins; 1998:1181\u20131197."},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290117"},{"key":"e_1_3_2_5_2","first-page":"317","volume":"83","year":"1952","unstructured":"Gibson S, Lewis K. Congenital heart disease following maternal rubella during pregnancy. Am J Dis Child. 1952;83:317\u2013319.","journal-title":"Am J Dis Child"},{"key":"e_1_3_2_6_2","unstructured":"Zetterqvist PA. Clinical and Genetic Study of Congenital Heart Defects [thesis]. Uppsala Sweden: University of Uppsala; 1972."},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/36342"},{"key":"e_1_3_2_8_2","unstructured":"Char F. Peculiar facies with short philtrum duck-bill lips ptosis and low-set ears: a new syndrome? Birth Defects Orig Art Ser. 1978;14(6B):303\u2013305."},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570108"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0695-235"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.1370110109"},{"key":"e_1_3_2_12_2","first-page":"482","volume":"37","year":"1985","unstructured":"Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. 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Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies). Clin Dysmorphol. 1992;1:17\u201321.","journal-title":"Clin Dysmorphol"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.61.9.906"},{"key":"e_1_3_2_26_2","first-page":"758","volume":"29","year":"1992","unstructured":"Rogers JC, Begleiter ML, Harris DJ. Patent ductus arteriosus in four generations of a family. J Med Genet. 1992;29:758. Letter.","journal-title":"J Med Genet"},{"key":"e_1_3_2_27_2","first-page":"659","volume":"31","year":"1994","unstructured":"Woods CG, Sheffield LJ. Further family with autosomal dominant patent ductus arteriosus. J Med Genet. 1994;31:659. Letter","journal-title":"J Med Genet"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1002\/ar.1092370312"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980401)76:4<297::AID-AJMG4>3.0.CO;2-N"},{"key":"e_1_3_2_30_2","first-page":"83","volume":"41","year":"1995","unstructured":"Nagata T, Weiss EH, Abe K, Kitagawa K, Ando A, Yara-Kikuti Y, Seldin MF, Ozato K, Inoko H, Taketo M. Physical mapping of the retinoid X receptor B gene in mouse and human. Immunogenetics. 1995;41:83\u201390.Char syndrome is an autosomal dominant trait characterized by patent ductus arteriosus, facial dysmorphism, and hand anomalies. A genome scan was performed with members of 2 unrelated families inheriting the disorder. Genetic linkage was achieved with polymorphic markers from chromosome 6p12-p21. By use of haplotype analysis, the Char syndrome critical region was assigned to a 3.1-cM interval. Future studies will permit refinement of that region, facilitating isolation of a gene underlying an inherited syndrome with patent ductus arteriosus.","journal-title":"Immunogenetics"}],"container-title":["Circulation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/01.CIR.99.23.3036","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,12]],"date-time":"2024-05-12T16:50:46Z","timestamp":1715532646000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/01.CIR.99.23.3036"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1999,6,15]]},"references-count":30,"journal-issue":{"issue":"23","published-print":{"date-parts":[[1999,6,15]]}},"alternative-id":["10.1161\/01.CIR.99.23.3036"],"URL":"https:\/\/doi.org\/10.1161\/01.cir.99.23.3036","relation":{},"ISSN":["0009-7322","1524-4539"],"issn-type":[{"value":"0009-7322","type":"print"},{"value":"1524-4539","type":"electronic"}],"subject":[],"published":{"date-parts":[[1999,6,15]]},"assertion":[{"value":"1998-11-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"1999-03-23","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"1999-06-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}