{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T13:48:04Z","timestamp":1778680084035,"version":"3.51.4"},"reference-count":8,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2002,12,13]],"date-time":"2002-12-13T00:00:00Z","timestamp":1039737600000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2002,12]]},"abstract":"<jats:p>Bahuau M, Houdayer C, Tredano M, Soupre V, Couderc R, Vazquez M\u2010P. <jats:italic>FOXC2<\/jats:italic> truncating mutation in distichiasis, lymphedema, and cleft palate. \u2028Clin Genet 2002: 62: 470\u2013473. \u00a9 Blackwell Munksgaard, 2002<\/jats:p><jats:p>We report a family showing autosomal\u2010dominant segregation of upper\u2010 and lower\u2010eyelid distichiasis (double row of eyelashes) in seven affected relatives over three generations, in addition to below\u2010knee lymphedema of pubertal onset (<jats:italic>lymph\u0153dema pr\u0153cox<\/jats:italic>) in three. Two children had cleft palate in addition to distichiasis, but without the previously reported association with the Pierre\u2013Robin sequence. Other ophthalmologic anomalies included divergent strabismus and early\u2010onset myopia. This family was found to be completely linked to markers mapped to 16q24.3 and thereby proposed to be allelic to the distichiasis\u2013lymphedema syndrome (DL, MIM 153400), although pterygium colli, congenital heart disease, or facial dysmorphism were not features found here. As <jats:italic>FOXC2<\/jats:italic>\/<jats:italic>FKLH14<\/jats:italic> mutations were found to underlie DL and diverse hereditary lymphedema conditions, this gene was examined by sequence analysis. An out\u2010of\u2010frame deletion (914\u2013921del) was identified and found to segregate with the disease, further highlighting the phenotypic heterogeneity of lymphedema conditions linked to <jats:italic>FOXC2<\/jats:italic> truncating mutations. Whether such heterogeneity is related to genotype\u2013phenotype correlation, a hypothesis not primarily supported by the apparent loss\u2010of\u2010function mechanism of the mutations, or governed by modifying genes, remains to be determined.<\/jats:p>","DOI":"10.1034\/j.1399-0004.2002.620608.x","type":"journal-article","created":{"date-parts":[[2003,3,11]],"date-time":"2003-03-11T11:30:58Z","timestamp":1047382258000},"page":"470-473","source":"Crossref","is-referenced-by-count":30,"title":["<i>FOXC2<\/i> truncating mutation in distichiasis, lymphedema, and cleft palate"],"prefix":"10.1111","volume":"62","author":[{"given":"M","family":"Bahuau","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Houdayer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Tredano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V","family":"Soupre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Couderc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u2010P","family":"Vazquez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,12,13]]},"reference":[{"key":"e_1_2_3_2_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100528"},{"key":"e_1_2_3_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.7.478"},{"key":"e_1_2_3_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/302500"},{"key":"e_1_2_3_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/316915"},{"key":"e_1_2_3_6_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.122.6.1751"},{"key":"e_1_2_3_7_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.124.22.4627"},{"key":"e_1_2_3_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.11.1185"},{"key":"e_1_2_3_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.761"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1034%2Fj.1399-0004.2002.620608.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1034%2Fj.1399-0004.2002.620608.x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1034\/j.1399-0004.2002.620608.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T18:56:28Z","timestamp":1697568988000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1034\/j.1399-0004.2002.620608.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,12]]},"references-count":8,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2002,12]]}},"alternative-id":["10.1034\/j.1399-0004.2002.620608.x"],"URL":"https:\/\/doi.org\/10.1034\/j.1399-0004.2002.620608.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":[[2002,12]]}}}