title: Molecular characterization of the ERGIC-53 gene in two Japanese patients with combined factor V-factor VIII deficiency.
abstract: Combined deficiency of factor V and factor VIII is a distinct clinical entity and is an autosomal recessive disorder. Recently identification of the gene, the endoplasmic reticulum-Golgi intermediate compartment (ERGIC-53), responsible for combined factor V-factor VIII deficiency and mutations of the ERGIC-53 gene in affected patients have been reported. In this report we analyzed two Japanese patients with combined factor V-factor VIII deficiency by genomic polymerase chain reaction and sequencing analysis. In one patient we found a point mutation of C to T at nucleotide 604 in exon 5, resulting in a transition of arginine to stop codon, which was reported in previous reports. The DdeI digestion study demonstrated that this patient is homozygous for this nonsense mutation. In the other patient we found no mutation in the ERGIC-53 gene in analysis of the entire coding region and the intron/exon junctions, which is also consistent with the previous reports, suggesting the possibility of defects at other genetic loci.
authors.affiliation: Department of Medicine, University of Okayama, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Dansako
authors.forename: F
authors.initials: F
authors.lastname: Ishimaru
authors.forename: Y
authors.initials: Y
authors.lastname: Takai
authors.forename: J
authors.initials: J
authors.lastname: Tomoda
authors.forename: K
authors.initials: K
authors.lastname: Nakase
authors.forename: K
authors.initials: K
authors.lastname: Fujii
authors.forename: Y
authors.initials: Y
authors.lastname: Ogama
authors.forename: T
authors.initials: T
authors.lastname: Kozuka
authors.forename: N
authors.initials: N
authors.lastname: Sezaki
authors.forename: K
authors.initials: K
authors.lastname: Honda
authors.forename: M
authors.initials: M
authors.lastname: Harada
mesh_terms: D005166:Factor V Deficiency / Q000235:genetics*; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007564:Japan; D037241:Mannose-Binding Lectins; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D017421:Sequence Analysis
chemical_list: C084004:LMAN1 protein, human; D037241:Mannose-Binding Lectins; D008565:Membrane Proteins