{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:10Z","timestamp":1753869730934,"version":"3.41.2"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,12,2]],"date-time":"2019-12-02T00:00:00Z","timestamp":1575244800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81770168"],"award-info":[{"award-number":["81770168"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>von Willebrand disease (VWD) is the most common inherited bleeding disorder caused by defective or deficient von Willebrand factor (VWF). VWD type 3 is inherited in autosomal recessive manner. We described clinical and molecular features of VWD type 3 in two consanguineous marriage families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Peripheral blood was collected, PT, APTT, FVIII:C, VWF:RCo, VWF:Ag were measured. A targeted next\u2010generation sequencing panel covering <jats:italic>F8<\/jats:italic>, <jats:italic>F9<\/jats:italic>, and <jats:italic>VWF<\/jats:italic> genes was applied followed by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Both families had a baby die in their first year due to bleeding disorders. A 23\u2010year\u2010old female patient from family A suffered menorrhagia, and another 30\u2010year\u2010old male patient from family B was characterized with hematoma in the lower extremity. Both patients showed severely decreased FVIII:C, VWF:Ag. Recurrent homozygous <jats:italic>VWF<\/jats:italic> c.4696C&gt;T (p.Arg1566Ter) nonsense mutation was identified in the female patient, and novel homozygous <jats:italic>VWF<\/jats:italic> c.6450C&gt;A (p.Cys2150Ter) nonsense mutation was identified the male patient. Heterozygotes in family members showed mild\/moderate decrease in VWF:Ag or VWF:RCo.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We identified VWD type 3 in two consanguineous marriage families, and our work further strengthen the risk of delivering disorders inherited in AR manner in populations with frequent consanguineous partnerships.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1075","type":"journal-article","created":{"date-parts":[[2019,12,3]],"date-time":"2019-12-03T06:50:06Z","timestamp":1575355806000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Two cases of von Willebrand disease type 3 in consanguineous Chinese families"],"prefix":"10.1002","volume":"8","author":[{"given":"Xiong","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ning","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9518-9584","authenticated-orcid":false,"given":"Yanjun","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qun","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dengju","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Hematology Tongji Hospital Tongji Medical College Huazhong University of Science and Technology Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,12,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH12-10-0737"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.13175"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH16-05-0375"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0906079106"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2017.168765"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.12410"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12280"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1281028"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/hae.13396"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH15-07-0604"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)47430-3"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2016002923"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.09.016"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.17-21424"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH16-10-0794"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0021932012000673"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)76501-6"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.14796"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1177\/1076029616675969"}],"container-title":["Molecular Genetics &amp; 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