[Factor XI deficiency caused by a mutation of Gly400Val].
The patient described herein is a 69-year-old Japanese woman with a history of excessive bleeding after left heminephrectomy for a malignant renal tumor at 31 years of age. Her parents, who do not have abnormal bleeding, are first cousins. Her factor XI activity was less than 1% of normal with an prolonged activated partial thromboplastin time (APTT) of 74.3 seconds. Analysis of the patient's factor XI genes revealed homozygosity for a valine substituting for the wild-type glycine at amino acid 400 (Gly400Val). The patient has two children, neither of whom has abnormal bleeding and whose factor XI activities are 62% and 57% of normal, with APTT levels within normal limits in both cases. We herein report on a Japanese family with factor XI deficiency caused by Gly400Val mutation.
Sato
Tsutomu
T
Fourth Department of Internal Medicine, Sapporo Medical University, School of Medicine.
Iyama
Satoshi
S
Araki
Naoko
N
Murase
Kazuyuki
K
Sato
Yasushi
Y
Kobune
Masayoshi
M
Takimoto
Rishu
R
Matsunaga
Takuya
T
Kato
Junji
J
Kuroda
Hiroyuki
H
Niitsu
Yoshiro
Y
D000368:Aged; D019943:Amino Acid Substitution / Q000235:genetics*; D003062:Codon / Q000235:genetics; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000235:genetics*; D005260:Female; D005998:Glycine; D006720:Homozygote; D006801:Humans; D020125:Mutation, Missense; D014633:Valine
D003062:Codon; D004247:DNA; D005172:Factor XI; D014633:Valine; D005998:Glycine