{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T06:08:12Z","timestamp":1789625292104,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,12,19]],"date-time":"2017-12-19T00:00:00Z","timestamp":1513641600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Region of Lorraine (France)"},{"name":"Ministry of Health (PHRC COMET)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:p>Folate and vitamin B12 are needed for the proper embryo\u2010fetal development possibly through their interacting role in the 1\u2010carbon metabolism. Folate fortification reduces the prevalence of complex birth defects, and more specifically neural tube defects (NTDs). <jats:italic>GIF<\/jats:italic> and <jats:italic>FUT2<\/jats:italic> are 2 genes associated with the uptake and blood level of vitamin B12. We evaluated <jats:italic>GIF<\/jats:italic> and <jats:italic>FUT2<\/jats:italic> as predictors of severe birth defects, in 183 aborted fetuses compared with 375 healthy newborns. The <jats:italic>GIF290C<\/jats:italic> allele frequency was estimated to 0.4% in healthy newborns and to 8.1% in NTD fetuses (odds ratio 17.8 [95% confidence interval CI: 4.0\u201077.6]). The frequency of <jats:italic>FUT2<\/jats:italic> rs601338 secretor variant was not different among groups. The <jats:italic>GIF 290C<\/jats:italic> heterozygous\/<jats:italic>FUT2<\/jats:italic> rs601338 secretor variant combined genotype was reported in 6 of the 37 NTD fetuses, but not in other fetuses and healthy newborns (<jats:italic>P<\/jats:italic> &lt; .0001). This <jats:italic>GIF<\/jats:italic>\/<jats:italic>FUT2<\/jats:italic> combined genotype has been previously reported in children with congenital gastric intrinsic factor (GIF) deficiency, with respective consequences on B12 binding activity and GIF secretion. In conclusion, a genotype reported in congenital GIF deficiency produces also severe forms of NTD. This suggests that vitamin B12 delivery to neural tissue by the CUBN\/GIF pathway could play a role in the neural tube closure mechanisms.<\/jats:p>","DOI":"10.1111\/cge.13104","type":"journal-article","created":{"date-parts":[[2017,7,25]],"date-time":"2017-07-25T15:46:39Z","timestamp":1500997599000},"page":"191-193","source":"Crossref","is-referenced-by-count":4,"title":["Association of combined <i>GIF290T&gt;C<\/i> heterozygous mutation\/<i>FUT2<\/i> secretor variant with neural tube defects"],"prefix":"10.1111","volume":"93","author":[{"given":"R.M.","family":"Gu\u00e9ant\u2010Rodriguez","sequence":"first","affiliation":[{"name":"Inserm\u2010UMRS 954 (Nutrition\u2010Genetics\u2010Environmental Risks) and National Reference Centre for Inherited Metabolic Diseases University of Lorraine and University Regional Hospital Center  Vandoeuvre l\u00e8s Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Chery","sequence":"additional","affiliation":[{"name":"Inserm\u2010UMRS 954 (Nutrition\u2010Genetics\u2010Environmental Risks) and National Reference Centre for Inherited Metabolic Diseases University of Lorraine and University Regional Hospital Center  Vandoeuvre l\u00e8s Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.\u2010M.","family":"Caillierez\u2010Fofou","sequence":"additional","affiliation":[{"name":"Inserm\u2010UMRS 954 (Nutrition\u2010Genetics\u2010Environmental Risks) and National Reference Centre for Inherited Metabolic Diseases University of Lorraine and University Regional Hospital Center  Vandoeuvre l\u00e8s Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Voirin","sequence":"additional","affiliation":[{"name":"Inserm\u2010UMRS 954 (Nutrition\u2010Genetics\u2010Environmental Risks) and National Reference Centre for Inherited Metabolic Diseases University of Lorraine and University Regional Hospital Center  Vandoeuvre l\u00e8s Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Foliguet","sequence":"additional","affiliation":[{"name":"Inserm\u2010UMRS 954 (Nutrition\u2010Genetics\u2010Environmental Risks) and National Reference Centre for Inherited Metabolic Diseases University of Lorraine and University Regional Hospital Center  Vandoeuvre l\u00e8s Nancy France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Josse","sequence":"additional","affiliation":[{"name":"Inserm\u2010UMRS 954 (Nutrition\u2010Genetics\u2010Environmental Risks) and National Reference Centre for Inherited Metabolic Diseases University of Lorraine and University Regional Hospital Center  Vandoeuvre l\u00e8s Nancy 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Inherited Metabolic Diseases University of Lorraine and University Regional Hospital Center  Vandoeuvre l\u00e8s Nancy 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