Superior mesenteric venous thrombosis associated with a familial missense mutation (Pro626Leu) in the SHBG-like domain of the protein S molecule.
A 76-year-old Japanese woman was hospitalized for ileus symptoms caused by extensive thrombosis of the superior mesenteric vein. Because laboratory test results suggested type III protein S (PS) deficiency, molecular changes in PS were investigated. A single-base transition, CCG to CTG at codon 626 in exon XV, resulting in the missense mutation Pro626Leu, was identified in an allele of the patient and in her son. Reverse transcriptase polymerase chain reaction analysis indicated the presence of both normal and mutant types of PS messages in platelet-derived messenger RNAs. Our findings thus suggest that Pro626 in SHBG-like domain 7 may be crucial for in vivo antithrombotic activity of the PS molecule.
Kato
Miyuki
M
Second Department of Internal Medicine, Nagoya City University Medical School, Japan.
Iida
Shinsuke
S
Sato
Mikinori
M
Hayami
Yoshihito
Y
Hanamura
Ichiro
I
Miura
Kazuhisa
K
Ito
Masato
M
Harada
Shinsuke
S
Komatsu
Hirokazu
H
Wakita
Atsushi
A
Manabe
Tadao
T
Ueda
Ryuzo
R
D000368:Aged; D000483:Alleles; D019943:Amino Acid Substitution; D001792:Blood Platelets / Q000737:chemistry; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008641:Mesenteric Vascular Occlusion / Q000209:etiology*; D008642:Mesenteric Veins; D020125:Mutation, Missense; D017354:Point Mutation; D011110:Polymorphism, Genetic; D017293:Protein S / Q000737:chemistry / Q000235:genetics*; D018455:Protein S Deficiency / Q000150:complications / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics; D012333:RNA, Messenger / Q000097:blood / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D019851:Thrombophilia / Q000150:complications / Q000235:genetics*; D020246:Venous Thrombosis / Q000209:etiology*
D017293:Protein S; D012333:RNA, Messenger