Protein S Tokushima: an abnormal protein S found in a Japanese family with thrombosis.
An abnormal protein S (PS) was found in a Japanese family with a high incidence of thrombosis. The proband is a woman who was born in Tokushima Prefecture. She had superior sagittal sinus thrombosis, thrombophlebitis of the left leg, and thrombosis of the placenta. She had a normal plasma level of free PS antigen but decreased PS activity. Her mother and aunt also had thrombophlebitis of the leg, and together with four other family members also showed a normal level but decreased activity of PS. This suggests that hereditary dysfunction of PS is inherited in this family as an autosomal dominant trait. The proband's PS appears to have a slightly higher molecular weight than normal PS both in the intact and modified form, suggesting that it has a molecular defect on the carboxyl-terminal side of the thrombin-sensitive site. This abnormal PS with apparently unique characteristics was named PS Tokushima.
Shigekiyo
T
T
First Department of Internal Medicine, School of Medicine, University of Tokushima, Japan.
Uno
Y
Y
Kawauchi
S
S
Saito
S
S
Hondo
H
H
Nishioka
J
J
Hayashi
T
T
Suzuki
K
K
D000328:Adult; D002352:Carrier Proteins / Q000032:analysis; D005260:Female; D005313:Fetal Death / Q000209:etiology; D005799:Genes, Dominant; D006801:Humans; D015151:Immunoblotting; D016167:Integrin alphaXbeta2; D007564:Japan; D008297:Male; D008875:Middle Aged; D008970:Molecular Weight; D010375:Pedigree; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000097:blood / Q000209:etiology; D017293:Protein S / Q000235:genetics* / Q000302:isolation & purification; D012008:Recurrence; D013927:Thrombosis / Q000097:blood / Q000235:genetics*
D002352:Carrier Proteins; D016167:Integrin alphaXbeta2; D017293:Protein S; C083863:protein S Tokushima