{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T13:06:31Z","timestamp":1790255191155,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:00:00Z","timestamp":1789689600000},"content-version":"vor","delay-in-days":17,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100013317","name":"Shanxi Provincial Key Research and Development Project","doi-asserted-by":"publisher","award":["201603D321107"],"award-info":[{"award-number":["201603D321107"]}],"id":[{"id":"10.13039\/501100013317","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2026,9]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n Congenital afibrinogenemia is an extremely rare autosomal recessive bleeding disorder with an estimated incidence of one in one million, caused by mutations in the fibrinogen\u2010encoding genes.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n We report a genetically confirmed case of FGA\u2010related congenital afibrinogenemia in a 9\u2010year\u2010old female child. Comprehensive coagulation analysis revealed undetectable fibrinogen activity (FIB:C, <\u20090.2\u2009g\/L) as measured by the Clauss assay, along with significantly prolonged prothrombin time, activated partial thromboplastin time, and thrombin time.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n Next\u2010generation sequencing targeting coagulation\u2010related genes identified compound heterozygous mutations in FGA (NM_000508): a paternal nonsense mutation c.502C>T (p.Arg168Ter) in Exon 4 and a maternal frameshift mutation c.668delT (p.Leu223ArgfsX2) in Exon 5. These pathogenic variants were further confirmed by Sanger sequencing in the proband and her parents, which demonstrated that the proband carried the two FGA variants in a compound heterozygous state, with paternal inheritance of c.502C>T and maternal inheritance of c.668delT.<\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n This case expands the genotype\u2013phenotype correlation database for fibrinogen disorders and underscores the necessity of molecular diagnosis for congenital coagulation defects.<\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/bdr2.70109","type":"journal-article","created":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T12:51:47Z","timestamp":1789735907000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Compound Heterozygous Mutations in\n FGA<\/scp>\n Cause Congenital Afibrinogenemia: A Case Report and Literature Review"],"prefix":"10.1002","volume":"118","author":[{"given":"Liangliang","family":"Liu","sequence":"first","affiliation":[{"name":"Shanxi Kangbao Biological Products Co. Ltd. Changzhi Shanxi Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desheng","family":"Yuan","sequence":"additional","affiliation":[{"name":"Beijing Hiphar Medical Technology Co. Ltd. Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huaxing","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Burn Surgery The Second People's Hospital of Changzhi Changzhi Shanxi Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-2124-6052","authenticated-orcid":false,"given":"Bacui","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Pharmacy The Second People's Hospital of Changzhi Changzhi Shanxi Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,18]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/07391102.2016.1229634"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2016.06.024"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21217830"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPH.0000000000001658"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1571339"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2020.100793"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22020655"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2020001472"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2021.278945"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.2021012537"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/scd.12814"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1684\/abc.2016.1167"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1160\/TH16-02-0082"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms19010192"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jstrokecerebrovasdis.2022.106526"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/MBC.0000000000001041"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcla.25123"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1581103"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.3390\/diagnostics11112140"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21134616"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1080\/17474086.2016.1200967"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1080\/16078454.2020.1746109"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1080\/16078454.2021.1893977"}],"container-title":["Birth Defects Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.70109","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/bdr2.70109","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdr2.70109","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T12:39:53Z","timestamp":1790253593000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdr2.70109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9]]},"references-count":23,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1002\/bdr2.70109"],"URL":"https:\/\/doi.org\/10.1002\/bdr2.70109","archive":["Portico"],"relation":{},"ISSN":["2472-1727","2472-1727"],"issn-type":[{"value":"2472-1727","type":"print"},{"value":"2472-1727","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9]]},"assertion":[{"value":"2026-03-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-18","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70109"}}