{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:02:42Z","timestamp":1792166562930,"version":"4.4.0"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,1,24]],"date-time":"2002-01-24T00:00:00Z","timestamp":1011830400000},"content-version":"vor","delay-in-days":23,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2002,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the sonographic diagnosis and molecular analysis of holoprosencephaly (HPE) and premaxillary agenesis in a second\u2010trimester fetus with a 46,XY karyotype. Mutational sequence analyses for the entire coding region and exon\u2013intron boundaries of <jats:italic>SHH<\/jats:italic>, <jats:italic>ZIC2<\/jats:italic>, <jats:italic>SIX3<\/jats:italic> and <jats:italic>TGIF<\/jats:italic> genes identified a novel heterozygous missense <jats:italic>TGIF<\/jats:italic> mutation 268C\u2192T (CGC\u2192TGC change) that predicts an Arg90Cys substitution in the homeodomain region of TGIF. The proband's parents did not carry the mutation. The present case is an example of the heterogeneous entity of the HPE spectrum and demonstrates that adjunctive molecular analyses of distinct human genes for HPE can reassure genetic counselling by elucidating the genetic pathogenesis, especially in cytogenetically normal fetuses affected with HPE. Copyright \u00a9 2002 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.202","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T22:11:41Z","timestamp":1030313501000},"page":"5-7","source":"Crossref","is-referenced-by-count":27,"title":["Molecular diagnosis of a novel heterozygous 268C\u2192T (R90C) mutation in <i>TGIF<\/i> gene in a fetus with holoprosencephaly and premaxillary agenesis"],"prefix":"10.1002","volume":"22","author":[{"given":"Chih\u2010Ping","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Schu\u2010Rern","family":"Chern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin\u2010Hua","family":"Du","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wayseen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,1,24]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.52.31178"},{"key":"e_1_2_1_3_1","first-page":"A606","article-title":"A small deletion in the putative \u2018critical region\u2019 in chromosome 13q32 in a fetus with isolated holoprosencephaly","volume":"57","author":"Brown SA","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/2484"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.63"},{"key":"e_1_2_1_6_1","first-page":"A32","article-title":"Mutations in the transcription factor TGIF in holoprosencephaly","volume":"63","author":"Gripp KW","year":"1998","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/76074"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0393-247"},{"key":"e_1_2_1_9_1","first-page":"1074","article-title":"Physical mapping ofthe holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome","volume":"57","author":"Muenke M","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(00)00084-8"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<315::AID-AJMG10>3.0.CO;2-Y"},{"key":"e_1_2_1_12_1","first-page":"1080","article-title":"Physical mapping of the holoprosencephaly critical region in 18p11.3","volume":"57","author":"Overhauser J","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-357"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050486"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005406719292"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.2.223"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420510605"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/9718"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200008)16:2<99::AID-HUMU2>3.0.CO;2-0"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80712-6"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.202","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.202","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T10:16:08Z","timestamp":1700388968000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.202"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,1]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,1]]}},"alternative-id":["10.1002\/pd.202"],"URL":"https:\/\/doi.org\/10.1002\/pd.202","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,1]]}}}