A 34 year old female patient was scheduled to undergo surgical resection due to a"breast nodule".Preoperative examination revealed an activated partial thromboplastin time(APTT)of 66.2 seconds,coagulation factor Ⅺ activity(FⅪ:C)of 2％,and FⅪ antigen(FⅪ:Ag)of 40.3％.The patient and family members showed no abnormal bleeding symptoms.Diagnosed as hereditary coagulation factor Ⅺ deficiency.Genetic testing revealed that the F11 gene had a heterozygous nonsense mutation in exon 10,c.1107C＞A(p.Tyr351stop),and a heterozygous missense mutation in exon 13,c.1562A＞G(p.Tyr503Cys).The father and son were p Heterozygous carriers of Tyr351stop mutation,while the mother and daughter are p Heterozygous carriers of Tyr503Cys mutations.The in vitro expression results showed that p The Tyr351stop mutation resulted in a significant decrease in the transcription level of F11 gene,while p The Tyr503Cys mutation has no effect on the transcription level and protein expression level of F1 1 gene,but it leads to a significant decrease in the level of FⅪ:C in the cell culture supernatant.
NETL
NSTL
维普
万方数据
