{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T21:18:48Z","timestamp":1792271928100,"version":"4.4.0"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,11,2]],"date-time":"2010-11-02T00:00:00Z","timestamp":1288656000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:p>Stallmeyer B, Fenge H, Nowak\u2010G\u00f6ttl U, Schulze\u2010Bahr E. Mutational spectrum in the cardiac transcription factor gene <jats:italic>NKX2.5<\/jats:italic> (<jats:italic>CSX<\/jats:italic>) associated with congenital heart disease.<\/jats:p><jats:p>Heterozygous mutations in the human transcription factor gene <jats:italic>NKX2.5<\/jats:italic> are associated with either isolated or combined congenital heart disease (CHD), primarily secundum atrial septal defect\u2010II (ASD\u2010II), ventricular septal defect (VSD) or tetralogy of Fallot (TOF). Thus, <jats:italic>NKX2.5<\/jats:italic> has an important role at different stages of cardiac development. The frequency of <jats:italic>NKX2.5<\/jats:italic> mutations in a broader phenotypic spectrum of CHD is not completely determined. Here, we report the identification of two novel mutations in the <jats:italic>NKX2.5<\/jats:italic> gene in a screening of 121 patients with a broad spectrum of CHDs. However, mutations were only associated with familial ASD\u2010II and in both, patients also showed atrioventricular (AV) block. We found one missense mutation (R190L) in two siblings with ASD\u2010II and a frame\u2010shift mutation (A255fsX38) at the C\u2010terminus in a mother and daughter. In addition, a single patient with hypoplastic left heart syndrome (HLHS) had the reported sequence variant R25C. Importantly, sporadic cases of CHD that share phenotypic aspects of <jats:italic>NKX2.5<\/jats:italic> mutation carriers were negative for genetic analysis. Thus, even important for cardiac development, germline mutations in <jats:italic>NKX2.5<\/jats:italic> are rare in patients with sporadic CHD and genetic and\/or pathophysiologic heterogeneity is likely for sporadic forms of CHD.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2010.01422.x","type":"journal-article","created":{"date-parts":[[2010,4,21]],"date-time":"2010-04-21T02:26:26Z","timestamp":1271816786000},"page":"533-540","source":"Crossref","is-referenced-by-count":93,"title":["Mutational spectrum in the cardiac transcription factor gene <i>NKX2.5<\/i> (<i>CSX<\/i>) associated with congenital heart disease"],"prefix":"10.1111","volume":"78","author":[{"given":"B","family":"Stallmeyer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Fenge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U","family":"Nowak\u2010G\u00f6ttl","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Schulze\u2010Bahr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,11,2]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1097\/00001573-200403000-00007"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0735-1097(03)00420-0"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9041"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201702"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1253\/circj.66.561"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00392-006-0412-9"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2003.05.004"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.281.5373.108"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI8154"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1995.1027"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.5.2917"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI9860"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1161\/hc4601.098427"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026740"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02305"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature01827"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30684"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-21"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1526"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm302"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.108.171835"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardiores.2004.06.004"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.26.15628"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.19.1.526"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00246-007-9058-2"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2010.01422.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2010.01422.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T02:50:39Z","timestamp":1698720639000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2010.01422.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,2]]},"references-count":25,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1111\/j.1399-0004.2010.01422.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2010.01422.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,2]]}}}