Identification of four novel mutations in F5 associated with congenital factor V deficiency.
Coagulation factor V (FV) deficiency is a rare bleeding disorder characterized by low coagulant and antigen levels of FV with bleeding symptoms ranging from mild to severe. Only a limited number of mutations have been reported because of the large size of the factor V gene (F5) as well as the low prevalence. In this study, we have identified four novel mutations in F5 in five unrelated patients with congenital FV deficiency. All the patients, including two with undetectable FV activity, were asymptomatic and were found to have prolonged prothrombin time and activated partial thromboplastin time during preoperative screening or routine examinations. All four mutations found in this study are either missense or in-frame deletion. This is in contrast with previous reports of a high frequency of mutations introducing premature termination codons in inherited FV deficiency. Missense mutations of F5 might produce a mild phenotype and are not frequently diagnosed. Although FV deficiency is a very rare disorder with a predicted incidence of one in 1 million, this study suggests that the numbers of F5 mutations, especially missense mutations, are higher than estimated.
Kanaji
Sachiko
S
Division of Medical Biochemistry, Department of Biomolecular Sciences, Saga Medical School, Saga, 849-8501, Japan. Sachiko.Kanaji@bcw.edu.
Kanaji
Taisuke
T
Division of Medical Biochemistry, Department of Biomolecular Sciences, Saga Medical School, Saga, 849-8501, Japan.|Division of Hematology, Department of Medicine, Kurume University School of Medicine, Kurume, Fukuoka, 830-0011, Japan.
Honda
Miho
M
Clinical Laboratory, The Medical School Hospital, Saga Medical School, Saga, 849-8501, Japan.
Nakazato
Sachie
S
Clinical Laboratory, The Medical School Hospital, Saga Medical School, Saga, 849-8501, Japan.
Wakayama
Kazuo
K
Clinical Laboratory, The Medical School Hospital, Saga Medical School, Saga, 849-8501, Japan.
Tabata
Yoshitomi
Y
Clinical Laboratory, The Medical School Hospital, Saga Medical School, Saga, 849-8501, Japan.
Shibata
Shoichiro
S
Department of Internal Medicine, Saga Prefectural Hospital Koseikan, 1-12-9 Mizugae, Saga, 840-8571, Japan.
Gondo
Hisashi
H
Department of Internal Medicine, Saga Prefectural Hospital Koseikan, 1-12-9 Mizugae, Saga, 840-8571, Japan.
Nakamura
Ikuko
I
Department of Cardiovascular and Renal Medicine, Saga Medical School, Saga, 849-8501, Japan.
Node
Koichi
K
Department of Cardiovascular and Renal Medicine, Saga Medical School, Saga, 849-8501, Japan.
Miura
Masanori
M
Department of Internal Medicine, Karatsu Red Cross Hospital, 1-5-1 Futago, Karatsu, Saga, 847-8588, Japan.
Miyahara
Masaharu
M
Department of Internal Medicine, Karatsu Red Cross Hospital, 1-5-1 Futago, Karatsu, Saga, 847-8588, Japan.
Okamura
Takashi
T
Division of Hematology, Department of Medicine, Kurume University School of Medicine, Kurume, Fukuoka, 830-0011, Japan.
Nagumo
Fumio
F
Clinical Laboratory, The Medical School Hospital, Saga Medical School, Saga, 849-8501, Japan.
Ohta
Shoichiro
S
Department of Laboratory Medicine, Saga Medical School, Saga, 849-8501, Japan.
Izuhara
Kenji
K
Division of Medical Biochemistry, Department of Biomolecular Sciences, Saga Medical School, Saga, 849-8501, Japan.|Department of Laboratory Medicine, Saga Medical School, Saga, 849-8501, Japan.
D000293:Adolescent; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics*; D005166:Factor V Deficiency / Q000151:congenital / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D017384:Sequence Deletion
D005165:Factor V