Severe prekallikrein deficiencies due to homozygous C529Y mutations.
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.
François
Dominique
D
Laboratoire de Biologie Clinique, Hôpital Foch, Suresnes, France.
Trigui
Nawel
N
Leterreux
Guillaume
G
Flaujac
Claire
C
Horellou
Marie-Hélène
MH
Mazaux
Laurence
L
Vignon
Dominique
D
Conard
Jacqueline
J
de Mazancourt
Philippe
P
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
D011288:Prekallikrein