{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T04:34:06Z","timestamp":1785818046840,"version":"3.56.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,12,26]],"date-time":"2022-12-26T00:00:00Z","timestamp":1672012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital coagulation factor VII (FVII) deficiency is a rare, autosomal\u2010recessive haemorrhagic disorder with an estimated incidence of 1:500,000. This disorder is caused by mutations in the F7 gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case description<\/jats:title><jats:p>Here, we report a pedigree of congenital FVII deficiency. The proband was a 30\u2010year\u2010old female with severely low FVII activity and a history of menorrhagia and epistaxis since her childhood who was subsequently diagnosed with congenital compound heterozygous FVII deficiency. A genetic study revealed a novel combination of compound heterozygous mutations (c.64G \u232a A, p.Gly22Ser and c.1027G \u232a A, p.Gly343Ser). Her father and older son had the c.64G \u232a A, p.Gly22Ser (heterozygous) mutation. Her mother and younger son had the c.1027G \u232a A, p.Gly343Ser (heterozygous) mutation. The predicted results of PolyPhen\u20102 and MutationTaster indicated that these mutations were probably damaging and disease\u2010causing, respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In this study, we identified a novel combination of genetic mutations that could expand the mutant library and help in elucidating the pathogenesis of hereditary human coagulation FVII deficiency. A novel combination of compound heterozygous mutations was reported for the first time in Chinese individuals.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.24768","type":"journal-article","created":{"date-parts":[[2022,12,27]],"date-time":"2022-12-27T05:19:56Z","timestamp":1672118396000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Hereditary coagulation factor <scp>VII<\/scp> deficiency caused by novel compound heterozygous mutations in a Chinese pedigree: A case report"],"prefix":"10.1002","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4529-9283","authenticated-orcid":false,"given":"Ruimin","family":"Cai","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory The Affiliated Taian City Central Hospital of Qingdao University  Taian 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