{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,25]],"date-time":"2023-09-25T05:48:16Z","timestamp":1695620896131},"reference-count":33,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,5,11]],"date-time":"2015-05-11T00:00:00Z","timestamp":1431302400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2015,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>In approximately 90% of mild haemophilia A (<jats:styled-content style=\"fixed-case\">HA<\/jats:styled-content>) patients, a missense mutation can be identified using complete gene sequencing. In this study, multiplex ligation\u2010dependent probe amplification analysis was performed as a second step in 10 French\u2010speaking Belgian with mild <jats:styled-content style=\"fixed-case\">HA<\/jats:styled-content> presenting no detectable causal mutation by complete sequencing of the factor <jats:styled-content style=\"fixed-case\">VIII<\/jats:styled-content> (FVIII) (<jats:italic>F8<\/jats:italic>) gene's 26 exons and its 1.2\u00a0kb of contiguous promoter sequence. This gene dosage technique enabled the detection of exon 1 duplications of <jats:italic>F8<\/jats:italic> in three apparently unrelated subjects. Using array\u2010comparative genomic hybridization, breakpoint analysis delimited the duplication extent to 210\u00a0kb in the <jats:italic>F8<\/jats:italic> intron 1 and <jats:italic><jats:styled-content style=\"fixed-case\">VBP<\/jats:styled-content>1<\/jats:italic> gene intragenic position. We postulated that the rearrangement responsible for this duplication, never before reported, could be attributed to a symmetrical tandem inversion duplication, resulting in a large 233\u00a0kb rearrangement of <jats:italic>F8<\/jats:italic> intron 1. This rearranged intron should lead to the production of a small number of normal <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> transcripts in relation to the mild <jats:styled-content style=\"fixed-case\">HA<\/jats:styled-content> phenotype. Our analysis of the entire <jats:italic>F8<\/jats:italic> <jats:styled-content style=\"fixed-case\">mRNA<\/jats:styled-content> from index case 1, particularly the segment containing exons 1\u20139, revealed normal amplification and sequencing. Reduced plasma <jats:styled-content style=\"fixed-case\">FVIII<\/jats:styled-content> antigen levels caused by cross\u2010reacting material is associated with a quantitative deficiency of plasma FVIII. Male patients were unresponsive to desmopressin (1\u2010deamino\u20108\u2010D\u2010arginine vasopressin). All patients displayed identical <jats:italic>F8<\/jats:italic> haplotypes, despite not being related, which suggests a possible founder effect caused by a 210\u00a0kb duplication involving <jats:italic>F8<\/jats:italic> exon 1.<\/jats:p>","DOI":"10.1111\/hae.12675","type":"journal-article","created":{"date-parts":[[2015,5,11]],"date-time":"2015-05-11T10:55:09Z","timestamp":1431341709000},"page":"516-522","source":"Crossref","is-referenced-by-count":5,"title":["Tandem inversion duplication within <i>F8<\/i> Intron 1 associated with mild haemophilia A"],"prefix":"10.1111","volume":"21","author":[{"given":"N.","family":"Lannoy","sequence":"first","affiliation":[{"name":"Center of Human Genetics UCLouvain Cliniques Universitaires Saint\u2010Luc Bruxelles Belgium"},{"name":"Institut de Recherche Exp\u00e9rimentale et Clinique (IREC) Universit\u00e9 Catholique de Louvain Bruxelles Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Bandelier","sequence":"additional","affiliation":[{"name":"Center of Human Genetics UCLouvain Cliniques Universitaires Saint\u2010Luc Bruxelles Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Grisart","sequence":"additional","affiliation":[{"name":"Center of Human Genetics Institut de Pathologie et de G\u00e9n\u00e9tique (IPG) Charleroi (Gosselies) Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Reginster","sequence":"additional","affiliation":[{"name":"Department of Hemato\u2010oncology Centre Hospitalier Regional de Huy Huy Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Ronge\u2010Collard","sequence":"additional","affiliation":[{"name":"Hemostasis Laboratory Department of Biological Chemistry Centre Hospitalier Regional de Li\u00e8ge Liege Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Vikkula","sequence":"additional","affiliation":[{"name":"Laboratory of Human Molecular Genetics de Duve Institute Universit\u00e9 Catholique de Louvain Bruxelles Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Hermans","sequence":"additional","affiliation":[{"name":"Institut de Recherche Exp\u00e9rimentale et Clinique (IREC) Universit\u00e9 Catholique de Louvain Bruxelles Belgium"},{"name":"Haemostasis and Thrombosis Unit Haemophilia Clinic Division of Haematology Cliniques Universitaires Saint\u2010Luc Bruxelles Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,5,11]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2004.01005.x"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20208"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2008.01974.x"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2008.03125.x"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2010.04040.x"},{"key":"e_1_2_10_7_1","first-page":"758","article-title":"Duplication of exon 13 causes one\u2010third of the cases of mild hemophilia A in northern Italy","volume":"89","author":"Acquila M","year":"2004","journal-title":"Haematologica"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2516.2011.02640.x"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V99.1.168"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-06-026104"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2005.01140.x"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.275"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1619754"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.12061"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH13\u201010\u20100892"},{"key":"e_1_2_10_17_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human Androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1999","journal-title":"Am J Hum Genet"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000382"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538\u20107836.2011.04408.x"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150309"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1159\/000342914"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.112.142570"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.075903.107"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755\u20108417\u20101\u20104"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2593"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2004.12.008"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201765"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22041"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.11.008"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.2174\/138920205775811416"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80293-2"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.104.039701"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2009.03595.x"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.12173"}],"container-title":["Haemophilia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fhae.12675","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/hae.12675","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T16:27:56Z","timestamp":1695572876000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/hae.12675"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5,11]]},"references-count":33,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,7]]}},"alternative-id":["10.1111\/hae.12675"],"URL":"https:\/\/doi.org\/10.1111\/hae.12675","archive":["Portico"],"relation":{},"ISSN":["1351-8216","1365-2516"],"issn-type":[{"value":"1351-8216","type":"print"},{"value":"1365-2516","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,5,11]]}}}