{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T22:07:33Z","timestamp":1773180453598,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"18","license":[{"start":{"date-parts":[[2006,8,7]],"date-time":"2006-08-07T00:00:00Z","timestamp":1154908800000},"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":[[2006,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fraser syndrome (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, oral clefting and mental retardation. Mutations causing loss of function of the <jats:italic>FRAS1<\/jats:italic> gene have been demonstrated in five patients with Fraser syndrome. However, no phenotype\u2013genotype correlation was established and there was evidence for genetic heterogeneity. Fraser syndrome is rare and the <jats:italic>FRAS1<\/jats:italic> gene has 75 exons, complicating mutation screening in affected patients. We have screened two patients who fulfilled the diagnostic criteria for Fraser syndrome and three patients with related phenotypes (two patients with Manitoba oculotrichoanal syndrome and one patient with unilateral cryptophthalmos and labial fusion) for mutations in <jats:italic>FRAS1<\/jats:italic> to increase the molecular genetic data in patients with Fraser syndrome and related conditions. We report two new mutations in a patient with Fraser syndrome, a frameshift mutation and a deletion of two amino acids that we consider pathogenic as both alter the NG2\u2010like domain of the protein. Although we are still unable to clarify a phenotype\u2013genotype relationship in Fraser syndrome, our data add to the list of mutations associated with this syndrome. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31399","type":"journal-article","created":{"date-parts":[[2006,8,7]],"date-time":"2006-08-07T17:17:10Z","timestamp":1154971030000},"page":"1909-1914","source":"Crossref","is-referenced-by-count":33,"title":["Mutation analysis of the <i>FRAS1<\/i> gene demonstrates new mutations in a propositus with Fraser syndrome"],"prefix":"10.1002","volume":"140A","author":[{"given":"A.","family":"Slavotinek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.H.","family":"Sherr","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.E.","family":"Chudley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,8,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310119"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199404000-00001"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.9.549"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.24.16831"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2000.9696"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1549"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420609"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1142"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.9.623"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250111"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.16.10769"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1168"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31399","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31399","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T23:26:22Z","timestamp":1697671582000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31399"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,8,7]]},"references-count":12,"journal-issue":{"issue":"18","published-print":{"date-parts":[[2006,9,15]]}},"alternative-id":["10.1002\/ajmg.a.31399"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31399","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,8,7]]}}}