title: Two novel factor X gene mutations in a Chinese family with factor X deficiency.
abstract: We report a factor X (FX)-deficient Chinese family with two novel FX gene (F10) mutations. Two sibling probands had a bleeding tendency since childhood. Both had very low FX:C (<0.01 IU/ml) and FX:Ag (5-6%) levels and were heterozygous for two novel F10 mutations, a 2-bp GC deletion involving nucleotides 33 and 34, leading to premature chain termination at residue 45, and a T237-->C mutation, leading to Phe71-->Ser. A family study confirmed that the mother had the 2-bp GC deletion and a type I FX deficiency. The father had the Phe71-->Ser mutation. Interestingly, a type I FX deficiency was also observed, suggesting that Phe71-->Ser, occurring at a site sandwiched between two Gla residues, might perturb FX protein stability.
authors.affiliation: University Department of Medicine, Queen Mary Hospital, Professorial Block, Pokfulam Road, Hong Kong.
authors.forename: W Y
authors.initials: WY
authors.lastname: Au
authors.forename: C C K
authors.initials: CC
authors.lastname: Lam
authors.forename: W C
authors.initials: WC
authors.lastname: Cheung
authors.forename: Y L
authors.initials: YL
authors.lastname: Kwong
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D001780:Blood Coagulation Tests; D003596:Cytosine; D005170:Factor X / Q000235:genetics*; D005171:Factor X Deficiency / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006147:Guanine; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010649:Phenylalanine; D012694:Serine
chemical_list: D012694:Serine; D010649:Phenylalanine; D006147:Guanine; D003596:Cytosine; D005170:Factor X