{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:50:25Z","timestamp":1790833825472,"version":"4.1.0"},"reference-count":24,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2003,12,1]],"date-time":"2003-12-01T00:00:00Z","timestamp":1070236800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Dent Res"],"published-print":{"date-parts":[[2003,12]]},"abstract":"<jats:p>Rieger syndrome is one of the most serious causes of tooth agenesis. Mutations in the PITX2, FOXC1, and PAX6 genes have been associated with Rieger syndrome. We have studied a three-generation Chinese family affected with Rieger syndrome and showing prominent dental abnormalities. Mutational screening and sequence analysis of the PITX2 gene revealed a previously unidentified four-base-pair deletion of nucleotides 717-720 in exon 5 in all affected members. The mutation causes a frame shift after Thr44, the 7th amino acid of the homeo-domain, and introduces a premature stop codon in the gene sequence. This deletion is the first unquestionable loss-of-function mutation, deleting all the functionally important parts of the protein. Our novel discovery indicates that the oligodontia and other phenotypes of Rieger syndrome observed in this family are due to this PITX2 mutation, and these data further support the critical role of PIXT2 in tooth morphogenesis.<\/jats:p>","DOI":"10.1177\/154405910308201214","type":"journal-article","created":{"date-parts":[[2009,1,8]],"date-time":"2009-01-08T19:39:42Z","timestamp":1231443582000},"page":"1008-1012","source":"Crossref","is-referenced-by-count":20,"title":["Novel Identification of a Four-base-pair Deletion Mutation in\n                    <i>PITX2<\/i>\n                    in a Rieger Syndrome Family"],"prefix":"10.1177","volume":"82","author":[{"given":"Y.","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Prosthodontics, School of Stomatology, Peking University, 22 Zhong Guan Cun Nan Da Jie,  Beijing 100081, People\u2019s Republic of China; and"},{"name":"Department of Immunology, School of Basic Medicine, Peking University Health Science Center, and Peking University Center for Human Disease Genomics, 38 Xue Yuan Road, Beijing, 100083, People\u2019s Republic of China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics, School of Stomatology, Peking University, 22 Zhong Guan Cun Nan Da Jie,  Beijing 100081, People\u2019s Republic of China; and"},{"name":"Department of Immunology, School of Basic Medicine, Peking University Health Science Center, and Peking University Center for Human Disease Genomics, 38 Xue Yuan Road, Beijing, 100083, People\u2019s Republic of China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics, School of Stomatology, Peking University, 22 Zhong Guan Cun Nan Da Jie,  Beijing 100081, People\u2019s Republic of China; and"},{"name":"Department of Immunology, School of Basic Medicine, Peking University Health Science Center, and Peking University Center for Human Disease Genomics, 38 Xue Yuan Road, Beijing, 100083, People\u2019s Republic of China;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Feng","sequence":"additional","affiliation":[{"name":"Department of Prosthodontics, School of Stomatology, Peking University, 22 Zhong Guan Cun Nan Da Jie,  Beijing 100081, People\u2019s Republic of China; and"},{"name":"Department of Immunology, School of Basic Medicine, Peking University Health Science Center, and Peking University Center for Human Disease Genomics, 38 Xue Yuan Road, Beijing, 100083, People\u2019s Republic of China;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2003,12,1]]},"reference":[{"key":"ALWARD-ETAL-1998","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(99)80242-6"},{"key":"AMENDT-ETAL-2000","doi-asserted-by":"publisher","DOI":"10.1007\/PL00000647"},{"key":"BORGES-ETAL-2002","doi-asserted-by":"publisher","DOI":"10.1097\/00061198-200202000-00010"},{"key":"COX-ETAL-2002","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M201737200"},{"key":"DOWARD-ETAL-1999","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.2.152"},{"key":"ESPINOZA-ETAL-2002","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.7.743"},{"key":"GAGE-ETAL-1999","doi-asserted-by":"publisher","DOI":"10.1242\/dev.126.20.4643"},{"key":"GORLIN-ETAL-1976","unstructured":"Gorlin RJ, Pindborg J, Cohen MM -1976- Syndromes of the head and neck. In: Syndromes with unusual dental findings. New York, NY: McGraw-Hill, pp. 649-651."},{"key":"KAWASE-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1097\/00061198-200112000-00007"},{"key":"KIOUSSI-ETAL-1999","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.96.25.14378"},{"key":"KOZLOWSKI-AND-WALTER-2000","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.14.2131"},{"key":"KULAK-ETAL-1998","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.7.1113"},{"key":"KUME-ETAL-2000","doi-asserted-by":"publisher","DOI":"10.1242\/dev.127.7.1387"},{"key":"MIRZAYANS-ETAL-2000","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200354"},{"key":"MUCCHIELLI-ETAL-1997","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1997.8672"},{"key":"NISHIMURA-ETAL-1998","doi-asserted-by":"publisher","DOI":"10.1038\/493"},{"key":"PERVEEN-ETAL-2000","unstructured":"Perveen R, Lloyd IC, Clayton-Smith J, Churchill A, von Heyningen V, Hanson I,\n                      et al\n                      .2000- Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations. Invest Ophthal Mol Vis Sci 41:2456\u20132460."},{"key":"PHILLIPS-2002","doi-asserted-by":"publisher","DOI":"10.1159\/000065602"},{"key":"PHILLIPS-ETAL-1996","unstructured":"Phillips JC, del Bono EA, Haines JL, Pralea AM, Cohen JS, Greff LJ,\n                      et al\n                      .1996- A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet 59:613\u2013619."},{"key":"PRISTON-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.16.1631"},{"key":"RIISE-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0420.2001.079002201.x"},{"key":"SAADI-ETAL-2001","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M008592200"},{"key":"SEMINA-ETAL-1996","doi-asserted-by":"publisher","DOI":"10.1038\/ng1296-392"},{"key":"ST-AMAND-ETAL-2000","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1999.9547"}],"container-title":["Journal of Dental Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/154405910308201214","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/154405910308201214","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/154405910308201214","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T21:00:00Z","timestamp":1777496400000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/154405910308201214"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,12]]},"references-count":24,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2003,12]]}},"alternative-id":["10.1177\/154405910308201214"],"URL":"https:\/\/doi.org\/10.1177\/154405910308201214","relation":{},"ISSN":["0022-0345","1544-0591"],"issn-type":[{"value":"0022-0345","type":"print"},{"value":"1544-0591","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,12]]}}}