{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T09:15:08Z","timestamp":1760865308487},"reference-count":14,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2007,5,17]],"date-time":"2007-05-17T00:00:00Z","timestamp":1179360000000},"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":[[2007,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>We present the first prenatal diagnosis of familial hepatic veno\u2010occlusive disease with immunodeficiency (VODI). Homozygous mutations in the gene <jats:italic>SP110<\/jats:italic> are the genetic basis of VODI. The proband in this report presented at three months of age with hepatomegaly hepatic failure and was found to have hypogammaglobulinemia. He died one month after hepatic transplant at eight months of age due to hemophagocytic syndrome. DNA testing detected a homozygous truncating mutation in exon 5; <jats:italic>SP110<\/jats:italic> c.642delC. Prenatal testing was offered to this family in a subsequent pregnancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Chorion villus was sampled at 12 weeks' gestation. DNA was extracted using standard techniques, and sequencing of <jats:italic>SP110<\/jats:italic> exon 5 was performed using flanking primers. Maternal contamination was excluded by examining STR markers in CVS and maternal DNA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A heterozygous <jats:italic>SP110<\/jats:italic> c.642delC mutation was detected in exon 5. This mutation was present in heterozygous form in both parents.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The prenatal test result is predictive of a child with a normal immune and hepatic phenotype. This report presents the first prenatal molecular diagnosis for VODI and shows the importance of molecular genetic research in not only defining the aetiology of syndromes but also in assisting reproductive choices through the collaboration of genetic and feto\u2010maternal services. Copyright \u00a9 2007 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.1759","type":"journal-article","created":{"date-parts":[[2007,5,17]],"date-time":"2007-05-17T22:30:12Z","timestamp":1179441012000},"page":"674-676","source":"Crossref","is-referenced-by-count":9,"title":["The first prenatal diagnosis for veno\u2010occlusive disease and immunodeficiency syndrome, an autosomal recessive condition associated with mutations in <i>SP110<\/i>"],"prefix":"10.1002","volume":"27","author":[{"given":"Simon T.","family":"Cliffe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie","family":"Wong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter J.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ezia","family":"Ruga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bridget","family":"Wilcken","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Lindeman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael F.","family":"Buckley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tony","family":"Roscioli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,5,17]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.45.243.722"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.46.29198"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.16.6138-6146.2000"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80546-2"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80199-1"},{"key":"e_1_2_1_7_1","doi-asserted-by":"crossref","first-page":"24432","DOI":"10.1016\/S0021-9258(20)80544-4","article-title":"Molecular\u2010cloning of 2 new interferon\u2010induced, highly related nuclear phosphoproteins","volume":"268","author":"Kadereit S","year":"1993","journal-title":"J Biol Chem"},{"key":"e_1_2_1_8_1","first-page":"314","article-title":"Veno\u2010occlusive disease of the liver associated with humoral and cellular immunodeficiency","volume":"36","author":"Manzanares Lopez\u2010Manzanares J","year":"1992","journal-title":"An Esp Pediatr"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)80988-2"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1780"},{"key":"e_1_2_1_11_1","unstructured":"RugaEM GuarisoG D'AntigaL et al.2006. Hepatic veno\u2010occlusive disease with immunodeficiency syndrome: case report. In12th Meeting of the European Society for Immunodeficiencies (ESID) Budapest."},{"key":"e_1_2_1_12_1","first-page":"240","article-title":"Veno\u2010occlusive disease of liver\u2014a familial episode","volume":"35","author":"Shah PK","year":"1987","journal-title":"J Assoc Phys India"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.279.5356.1547"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/3073"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.21.7498-7509.2003"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1759","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1759","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T18:03:23Z","timestamp":1700071403000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1759"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,5,17]]},"references-count":14,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2007,7]]}},"alternative-id":["10.1002\/pd.1759"],"URL":"https:\/\/doi.org\/10.1002\/pd.1759","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,5,17]]}}}