Fibrinogen Matsumoto II: gamma 308 Asn-->Lys (AAT-->AAG) mutation associated with bleeding tendency.
Fibrinogen Matsumoto II is a hereditary dysfibrinogenaemia identified in a woman with Basedow's disease and a bleeding tendency. Coagulation tests of the patient's plasma revealed a prolonged thrombin time and a decreased fibrinogen level determined by functional method. Release of fibrinopeptide A and B was normal, whereas fibrin monomer polymerization was delayed. Fibrinogen gamma-chain gene of the propositus was heterozygous for a missense mutation that resulted in Asn-->Lys substitution at codon 308. Though the same amino acid substitution was also attributed to fibrinogen Kyoto I and Bicetre II, fibrinogen Matsumoto II showed different clinical manifestations from them.
Okumura
N
N
Division of Clinical Chemistry and Medical Technology, School of Allied Medical Sciences, Shinshu University, Matsumoto, Japan.
Furihata
K
K
Terasawa
F
F
Ishikawa
S
S
Ueno
I
I
Katsuyama
T
T
D000347:Afibrinogenemia / Q000235:genetics*; D001483:Base Sequence; D001778:Blood Coagulation Disorders / Q000235:genetics*; D005260:Female; D015241:Fibrinogens, Abnormal / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D006473:Postpartum Hemorrhage / Q000235:genetics; D011247:Pregnancy
D015241:Fibrinogens, Abnormal