title: Superior mesenteric venous thrombosis associated with a familial missense mutation (Pro626Leu) in the SHBG-like domain of the protein S molecule.
abstract: 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.
authors.affiliation: Second Department of Internal Medicine, Nagoya City University Medical School, Japan.
authors.forename: Miyuki
authors.initials: M
authors.lastname: Kato
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Iida
authors.forename: Mikinori
authors.initials: M
authors.lastname: Sato
authors.forename: Yoshihito
authors.initials: Y
authors.lastname: Hayami
authors.forename: Ichiro
authors.initials: I
authors.lastname: Hanamura
authors.forename: Kazuhisa
authors.initials: K
authors.lastname: Miura
authors.forename: Masato
authors.initials: M
authors.lastname: Ito
authors.forename: Shinsuke
authors.initials: S
authors.lastname: Harada
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Komatsu
authors.forename: Atsushi
authors.initials: A
authors.lastname: Wakita
authors.forename: Tadao
authors.initials: T
authors.lastname: Manabe
authors.forename: Ryuzo
authors.initials: R
authors.lastname: Ueda
mesh_terms: 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*
chemical_list: D017293:Protein S; D012333:RNA, Messenger