title: Factor V deficiency caused by a novel nonsense mutation (Gln2031stop) in a Chinese patient.
abstract: Congenital factor V deficiency is a rare bleeding disorder characterized by low coagulant activity, associated with variable phenotypic expression. Among rare inherited coagulopathies, the molecular basis of factor V deficiency is rarely described because of its relatively low prevalence in the general population. Recently, we detected two genetic variations in factor V of a Chinese patient with hereditary factor V deficiency. One was a heterozygous nonsense mutation, C67868T in exon 22, which resulted in Gln2031stop substitution in the C1 domain of factor V. The other was a previously described polymorphism, G1618A in exon10, leading to Arg485Lys substitution. We deduced that the nonsense mutation is responsible for the factor V deficiency, whereas the Arg485Lys polymorphism is expected to compensate for the low plasma factor V levels. Of note, the nonsense mutation has been confirmed to be a novel mutation.
authors.affiliation: aDepartment of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University bDepartment of ICU, The First Affiliated Hospital of Wenzhou Medical University, Ouhai District, Wenzhou, China.
authors.forename: Yingyu
authors.initials: Y
authors.lastname: Wang
authors.forename: Liqing
authors.initials: L
authors.lastname: Zhu
authors.forename: Lianmin
authors.initials: L
authors.lastname: Ye
authors.forename: Yaosheng
authors.initials: Y
authors.lastname: Xie
authors.forename: Jingye
authors.initials: J
authors.lastname: Pan
authors.forename: Mingshan
authors.initials: M
authors.lastname: Wang
mesh_terms: D044466:Asian People; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005166:Factor V Deficiency / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense
chemical_list: D018389:Codon, Nonsense