{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T21:34:28Z","timestamp":1770500068964,"version":"3.49.0"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,11,2]],"date-time":"2004-11-02T00:00:00Z","timestamp":1099353600000},"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":[[2004,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Lymphedema\u2010distichiasis (LD) syndrome is a clinically variable autosomal dominant disorder. The disorder is caused by mutations in the forkhead transcription factor <jats:italic>FOXC2<\/jats:italic> gene on chromosome band 16q24.3. Here, we report the sequence of the <jats:italic>FOXC2<\/jats:italic> gene in a German\u2013Irish family with LD in six affected relatives over three generations and identify a single adenine base pair insertion at nt 1006\u20411007. This insertion creates a frameshift mutation that predicts a premature stop at codon 462. In addition to LD, four of the affected family members have renal disease and three have diabetes mellitus (DM), not usually seen in the LD syndrome. Polymorphisms of FOXC2 in diabetics have been studied in different populations. Our sequence analysis of the 5\u2032 untranslated region (UTR) C\u2010512T shows the homozygous T allele in all family members tested. The sequencing data in this family suggests the possibility of a novel phenotype\u2013haplotype. This novel phenotype, LD\/renal disease\/type 2 diabetes, might be the result of a combination of the nt 1006\u20411007 insA and the upstream UTR homozygous T polymorphism. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30390","type":"journal-article","created":{"date-parts":[[2004,11,12]],"date-time":"2004-11-12T23:47:37Z","timestamp":1100303257000},"page":"281-286","source":"Crossref","is-referenced-by-count":32,"title":["A novel frameshift mutation of <i>FOXC2<\/i> gene in a family with hereditary lymphedema\u2010distichiasis syndrome associated with renal disease and diabetes mellitus"],"prefix":"10.1002","volume":"131A","author":[{"given":"Cagri","family":"Yildirim\u2010Toruner","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kavitha","family":"Subramanian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lamya","family":"El Manjra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanley","family":"Goldstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emilia","family":"Vitale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,11,2]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.620608.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100528"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.7.478"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00474-3"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961218)66:3<273::AID-AJMG7>3.0.CO;2-Q"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.761"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/316915"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.11.1185"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200212"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.2337\/diab.45.11.1585"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.52.5.1292"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg123"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/338629"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4695"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.52.2.562"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1086\/374177"},{"key":"e_1_2_7_18_1","unstructured":"PatilBB BellR BriceG JefferyS DessaiSP.2004.Distichiasis without lymphedema? 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