{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T22:22:37Z","timestamp":1759962157210},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,2,13]],"date-time":"2006-02-13T00:00:00Z","timestamp":1139788800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>to identify whether any mutations of candidate genes including <jats:italic>SHH, ZIC2, SIX3, and TGIF<\/jats:italic> exist in a Taiwanese family segregated with holoprosencephaly (HPE) and moyamoya disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genotypes of the candidate genes <jats:italic>SHH, ZIC2, SIX3, and TGIF<\/jats:italic> were determined in the family members who were available for analysis by sequencing. In addition, genomic regions of another 50 unrelated Taiwanese (100 chromosomes) were studied to verify whether the nucleotide changes we found were mutations or polymorphisms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel missense mutation 377T &gt; C and two polymorphisms (420A &gt; G and 487C &gt; T) in the <jats:italic>TGIF<\/jats:italic> gene were identified. No mutations in <jats:italic>SHH, ZIC2<\/jats:italic> and <jats:italic>SIX3<\/jats:italic> were found. The mother of the three HPE fetuses was found to be afflicted with moyamoya disease. A brief review of the mutations as well as polymorphisms reported in the <jats:italic>TGIF<\/jats:italic> gene up to 2005 is given.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Molecular diagnosis can help genetic counseling in HPE, which is a heterogeneous disorder with its phenotypic and genotypic spectrum highly widened and variable. The possible association between <jats:italic>TGIF<\/jats:italic> mutation and moyamoya disease noted in our study also appeared to be novel. Copyright \u00a9 2006 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.1385","type":"journal-article","created":{"date-parts":[[2006,2,13]],"date-time":"2006-02-13T11:47:13Z","timestamp":1139831233000},"page":"226-230","source":"Crossref","is-referenced-by-count":10,"title":["A novel heterozygous missense mutation 377T &gt; C (V126A) of <i>TGIF<\/i> gene in a family segregated with holoprosencephaly and moyamoya disease"],"prefix":"10.1002","volume":"26","author":[{"given":"Ming","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shou\u2010Jen","family":"Kuo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chin\u2010San","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei\u2010Liang","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsang\u2010Ming","family":"Ko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tze\u2010Ho","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shun\u2010Ping","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chien\u2010Hao","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yih\u2010Yuan","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bao\u2010Tyan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,2,13]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1007\/s00439-002-0862-8","article-title":"Molecular 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