title: A de novo deletion in the C1 inhibitor gene in a case of sporadic hereditary angioneurotic edema.
abstract: A sporadic case of hereditary angioneurotic edema (HANE) is reported here. The patient was a 15-year-old girl who for 4 years had suffered recurrent episodes of urticaria-like erythema, followed by vomiting with abdominal pain. She was diagnosed as having Sjögren syndrome by results of sialography and serological studies, and moreover, it was also observed that the C1 inhibitor (C1-INH) activity in her plasma was very low during these episodes of urticarial erythema. Diagnosis of acquired angioneurotic edema (AANE) was excluded because the patient's plasma had no inhibitory effect on the C1-INH activity of normal individuals. Although neither of her parents had a history of HANE, we were able to show that the patient had HANE by Southern blot analysis using C1-INH cDNA as a probe. One of the patient's C1-INH gene alleles was revealed to have at least a 17-kb-length deletion including exons 5-8. Neither her parents nor her healthy brother showed any abnormalities on Southern blot analysis. The parent-child relationship in this family was confirmed by an HLA-typing study of all family members.
authors.affiliation: Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ariga
authors.forename: A
authors.initials: A
authors.lastname: Hoshioka
authors.forename: Y
authors.initials: Y
authors.lastname: Kohno
authors.forename: T
authors.initials: T
authors.lastname: Sakamaki
authors.forename: S
authors.initials: S
authors.lastname: Matsumoto
mesh_terms: D000293:Adolescent; D000483:Alleles; D000799:Angioedema / Q000235:genetics*; D001483:Base Sequence; D015139:Blotting, Southern; D002872:Chromosome Deletion; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D018076:DNA, Complementary / Q000032:analysis / Q000235:genetics; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data
chemical_list: D003174:Complement C1 Inactivator Proteins; D018076:DNA, Complementary