title: A large heterozygous deletion including the entire C1 inhibitor gene in a sporadic case of hereditary angio-oedema.
abstract: C1 inhibitor (C1-INH) deficiency [hereditary or acquired angio-oedema (HAE or AAE)] is characterized by recurring episodes of subcutaneous or submucosal oedema. Many different mutations in the C1-INH gene have been identified as a cause of HAE. We investigated the molecular basis of the disease in a Japanese woman with sporadic HAE. Direct sequencing of genomic DNA revealed no point mutation in the C1-INH gene. Quantitative real-time PCR showed that the copy number of the C1-INH gene in the patient was half that of a healthy control. Furthermore, we identified a 650-kbp deletion on the chromosome, which included the C1-INH gene. We evaluated the correlation between the patient's attacks and her coagulation activity. The levels of D-dimer were high during the angio-oedema attacks, and often exceeded the normal range even during remission, thus the level of D-dimer reflected the activity of HAE in this patient.
authors.affiliation: Department of Dermatology, Division of Molecular Medical Science, Graduate School of Biomedical Sciences, Hiroshima University, Minami-ku, Hiroshima, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Iwamoto
authors.forename: A
authors.initials: A
authors.lastname: Tanaka
authors.forename: M
authors.initials: M
authors.lastname: Kawai
authors.forename: K
authors.initials: K
authors.lastname: Ishii
authors.forename: S
authors.initials: S
authors.lastname: Mihara
authors.forename: M
authors.initials: M
authors.lastname: Hide
mesh_terms: D000328:Adult; D054179:Angioedemas, Hereditary / Q000097:blood / Q000235:genetics*; D044466:Asian People; D050718:Complement C1 Inhibitor Protein / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005338:Fibrin Fibrinogen Degradation Products / Q000032:analysis; D020022:Genetic Predisposition to Disease; D006801:Humans; D060888:Real-Time Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D050718:Complement C1 Inhibitor Protein; D005338:Fibrin Fibrinogen Degradation Products; C036309:fibrin fragment D