title: Hereditary angioedema caused by a point mutation of exon 7 in the C1 inhibitor gene.
abstract: Hereditary angioedema (HAE) is a genetic disease which may be detected serologically. We present a patient with HAE, in whom we examined the gene defect using the polymerase chain reaction. The patient presented with recurrent episodes of abdominal pain, or non-itchy swellings of the hands, feet, and penis. The serum levels of C1 inhibitor (C1-INH) and C4 were below normal. We determined that a single base change (C-->T) at nucleotide 1482 in the seventh exon was present in the C1-INH gene. This mutation converted the codon for the Gln-339 to a premature translation termination codon TAG. A point mutation in the C1-INH gene can cause type I HAE.
authors: Department of Dermatology, Yokohama City University School of Medicine, Japan.
authors: N
authors: N
authors: Ishii
authors: H
authors: H
authors: Ono
authors: H
authors: H
authors: Kawaguchi
authors: H
authors: H
authors: Nakajima
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000799:Angioedema / Q000235:genetics*; D001483:Base Sequence; D003174:Complement C1 Inactivator Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction
chemical_list: D003174:Complement C1 Inactivator Proteins