title: A novel factor X gene mutation Val (GTC) 384Ala (GCC) in a Chinese family resulting in congenital factor X deficiency.
abstract: FX is a vitamin K-dependent coagulation protease critically essential for the coagulation cascade. FXD (congenital deficiency of factor X) is a rare coagulation disorder that inherited as an autosomal recessive trait. Here we reported a patient with bleeding diathesis from infant. The proband with pseudotumor in cerebral articular and cavity were identified as encapsulated hematocele ultimately. FX sequence analysis revealed that the patient carried a novel homozygous missense mutation that resulted in the Val384Ala substitution. Further investigation of the novel mutation would deepen our understanding of the bleeding mechanism involved in FXD.
authors: Department of Hematology, Yantai Yuhuangding Hospital No. 20, Yuhuangding East Road, Yantai 264000, Shandong Province, China.
authors: Yanming
authors: Y
authors: Wang
authors: Department of Hematology, Yantai Yuhuangding Hospital No. 20, Yuhuangding East Road, Yantai 264000, Shandong Province, China.
authors: Junjie
authors: J
authors: Ma
authors: Department of Hematology, Yantai Yuhuangding Hospital No. 20, Yuhuangding East Road, Yantai 264000, Shandong Province, China.
authors: Xinguang
authors: X
authors: Liu
authors: Department of Hematology, Yantai Yuhuangding Hospital No. 20, Yuhuangding East Road, Yantai 264000, Shandong Province, China.
authors: Yan
authors: Y
authors: Wang
authors: Department of Hematology, Yantai Yuhuangding Hospital No. 20, Yuhuangding East Road, Yantai 264000, Shandong Province, China.
authors: Hui
authors: H
authors: Wang
authors: Department of Hematology, Yantai Yuhuangding Hospital No. 20, Yuhuangding East Road, Yantai 264000, Shandong Province, China.
authors: Li
authors: L
authors: Wang
authors: Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiaotong University School of Medicine Shanghai, China.
authors: Qiulan
authors: Q
authors: Ding
authors: Department of Hematology, Yantai Yuhuangding Hospital No. 20, Yuhuangding East Road, Yantai 264000, Shandong Province, China.
authors: Xiaoxia
authors: X
authors: Chu
authors: Department of Hematology, Qilu Hospital of Shandong University Jinan 250012, China.
authors: Ming
authors: M
authors: Hou
keywords: FX deficiency; FXD; coagulation disorder; gene mutation