title: A novel mutation in the coagulation factor 12 gene in subjects with hereditary angioedema and normal C1-inhibitor.
abstract: In hereditary angioedema with normal C1-inhibitor two different missense mutations of codon p.Thr328* in the coagulation factor 12 gene have been reported in some families. In this study a novel factor 12 gene mutation, the deletion of 72 base pairs (bp) (c.971_1018+24del72*), was identified in a family of Turkish origin, in two sisters with recurrent skin swellings and abdominal pain attacks and in their symptom-free father. This deletion caused a loss of 48 bp of exon 9 (coding amino acids 324* to 340*) in addition to 24 bp of intron 9, including the authentic donor splice site of exon 9. The large deletion of 72 bp was located in the same F12 gene region as the missense mutations p.Thr328Lys* and p.Thr328Arg* reported previously. Our findings confirm the association between F12 gene mutations modifying the proline-rich region of the FXII protein and hereditary angioedema with normal C1-inhibitor.
authors.affiliation: Department of Dermatology, Johannes Gutenberg University, Mainz, Germany. bork@hautklinik.klinik.uni-mainz.de
authors.forename: Konrad
authors.initials: K
authors.lastname: Bork
authors.forename: Karin
authors.initials: K
authors.lastname: Wulff
authors.forename: Peter
authors.initials: P
authors.lastname: Meinke
authors.forename: Nicola
authors.initials: N
authors.lastname: Wagner
authors.forename: Jochen
authors.initials: J
authors.lastname: Hardt
authors.forename: Günther
authors.initials: G
authors.lastname: Witzke
mesh_terms: D000328:Adult; D054179:Angioedemas, Hereditary / Q000097:blood / Q000235:genetics* / Q000276:immunology*; D050718:Complement C1 Inhibitor Protein / Q000235:genetics / Q000378:metabolism*; D004252:DNA Mutational Analysis; D005091:Exons; D005174:Factor XII / Q000737:chemistry / Q000235:genetics*; D005175:Factor XII Deficiency / Q000097:blood / Q000235:genetics / Q000276:immunology; D005260:Female; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D017384:Sequence Deletion; D014421:Turkey / Q000208:ethnology
chemical_list: D050718:Complement C1 Inhibitor Protein; D005174:Factor XII