title: Identification of Genetic Defects Underlying FXII Deficiency in Four Unrelated Chinese Patients.
abstract: Congenital factor XII (FXII) dexFB01;ciency is a rare autosomal recessive disorder, characterized by a great variability in its clinical manifestations. In this study, we screened for mutations in the F12 gene of 4 unrelated patients with FXII coagulant activity <10% of that of normal human plasma. To investigate the molecular defects in these FXII-deficient patients, we performed FXII mutation screening. By sequencing all coding exons as well as xFB02;anking intronic regions of the F12 gene, 6 different mutations, including 3 missense mutations (Gly341Arg, Glu502Lys and Gly542 Ser), 1 insertion (7142insertC) and 2 deletions (5741-5742 delCA and 6753-6755delACA), were identixFB01;ed on the F12 gene. Three of them (Gly341Arg, 5741-5742delCA and 6753-6755delACA) are reported here for the first time. Computer-based algorithms predicted these missense mutations to be deleterious. This study has increased our knowledge of the mutational spectrum underlying FXII deficiency.
authors.affiliation: Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.
authors.forename: Lihong
authors.initials: L
authors.lastname: Yang
authors.forename: Yingyu
authors.initials: Y
authors.lastname: Wang
authors.forename: Jianpin
authors.initials: J
authors.lastname: Zhou
authors.forename: Xiaoli
authors.initials: X
authors.lastname: Cheng
authors.forename: Xiuping
authors.initials: X
authors.lastname: Hao
authors.forename: Haixiao
authors.initials: H
authors.lastname: Xie
authors.forename: Yanhui
authors.initials: Y
authors.lastname: Jin
authors.forename: Mingshan
authors.initials: M
authors.lastname: Wang
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D005174:Factor XII / Q000235:genetics*; D005175:Factor XII Deficiency / Q000151:congenital / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional; D009154:Mutation; D020125:Mutation, Missense; D017384:Sequence Deletion
chemical_list: D005174:Factor XII