title: Severe prekallikrein deficiencies due to homozygous C529Y mutations.
abstract: Two consecutive severe prekallikrein deficiencies were investigated. The first was identified in a 63-year-old patient admitted for ischemic stroke. The second deficiency was identified in a 38-year-old patient admitted for a second-trimester pregnancy loss. A homozygous C529Y mutation was identified for both cases, whereas they are unrelated and no consanguineous marriage is known from the patients. These data point to a possible high frequency of this mutation as a cause of prekallikrein deficiency.
authors.affiliation: Laboratoire de Biologie Clinique, Hôpital Foch, Suresnes, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: François
authors.forename: Nawel
authors.initials: N
authors.lastname: Trigui
authors.forename: Guillaume
authors.initials: G
authors.lastname: Leterreux
authors.forename: Claire
authors.initials: C
authors.lastname: Flaujac
authors.forename: Marie-Hélène
authors.initials: MH
authors.lastname: Horellou
authors.forename: Laurence
authors.initials: L
authors.lastname: Mazaux
authors.forename: Dominique
authors.initials: D
authors.lastname: Vignon
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Conard
authors.forename: Philippe
authors.initials: P
authors.lastname: de Mazancourt
mesh_terms: D000328:Adult; D005260:Female; D006720:Homozygote; D006801:Humans; D008875:Middle Aged; D020125:Mutation, Missense; D011247:Pregnancy; D011248:Pregnancy Complications; D011288:Prekallikrein / Q000172:deficiency* / Q000235:genetics*; D020521:Stroke
chemical_list: D011288:Prekallikrein