{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T10:50:44Z","timestamp":1700650244109},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,5,21]],"date-time":"2004-05-21T00:00:00Z","timestamp":1085097600000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2004,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To present a report on prenatal diagnosis using direct <jats:italic>SPG4<\/jats:italic> gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD\u2010HSP).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected individuals, the affected father, the mother, and fetal DNA from an ongoing pregnancy by chorionic villus sampling (CVS) in the first trimester. The spastin gene (<jats:italic>SPG4<\/jats:italic>) was completely sequenced.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel 832insGdelAA frameshift mutation, predicted to cause loss of functional protein, was identified in the affected father and in the fetal DNA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This is the first report on direct prenatal diagnosis of chromosome 2p\u2013linked AD\u2010HSP (<jats:italic>SPG4<\/jats:italic>). In addition, we report a novel <jats:italic>SPG4<\/jats:italic>\u2010combined small insertion\/deletion mutation in exon 5, which may be the first <jats:italic>SPG4<\/jats:italic> mutational hot spot. Copyright \u00a9 2004 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.875","type":"journal-article","created":{"date-parts":[[2004,5,21]],"date-time":"2004-05-21T13:01:11Z","timestamp":1085144471000},"page":"363-366","source":"Crossref","is-referenced-by-count":11,"title":["Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (<i>SPG4<\/i>) using direct mutation detection"],"prefix":"10.1002","volume":"24","author":[{"given":"J\u00f8rgen E.","family":"Nielsen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pernille","family":"Koefoed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Kjaergaard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa Neerup","family":"Jensen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"N\u00f8rrem\u00f8lle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lis","family":"Hasholt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,5,21]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0303-8467(93)90006-3"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg004"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.2.153"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.8.1045"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.44.10.871"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(83)92879-9"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/15472"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/1097-0223(200103)21:3<202::AID-PD4>3.0.CO;2-U"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.11.1811"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.64.1.61"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(02)00192-2"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.875","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.875","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T17:14:53Z","timestamp":1700154893000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.875"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,5]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2004,5]]}},"alternative-id":["10.1002\/pd.875"],"URL":"https:\/\/doi.org\/10.1002\/pd.875","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,5]]}}}