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: Yanming Wang, Junjie Ma, Xinguang Liu, Yan Wang, Hui Wang, Li Wang, Qiulan Ding, Xiaoxia Chu, Ming Hou
• Journal: International journal of clinical and experimental medicine (Int J Clin Exp Med) Vol. 8 Issue 6 Pg. 10095-8 ( 2015) ISSN: 1940-5901 [Print] United States
• PMID: 26309706 (Publication Type: Case Reports)