title: Identification of four novel mutations in F5 associated with congenital factor V deficiency.
abstract: 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.
authors.affiliation: Division of Medical Biochemistry, Department of Biomolecular Sciences, Saga Medical School, Saga, 849-8501, Japan. Sachiko.Kanaji@bcw.edu.
authors.forename: Sachiko
authors.initials: S
authors.lastname: Kanaji
authors.affiliation: 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.
authors.forename: Taisuke
authors.initials: T
authors.lastname: Kanaji
authors.affiliation: Clinical Laboratory, The Medical School Hospital, Saga Medical School, Saga, 849-8501, Japan.
authors.forename: Miho
authors.initials: M
authors.lastname: Honda
authors.affiliation: Clinical Laboratory, The Medical School Hospital, Saga Medical School, Saga, 849-8501, Japan.
authors.forename: Sachie
authors.initials: S
authors.lastname: Nakazato
authors.affiliation: Clinical Laboratory, The Medical School Hospital, Saga Medical School, Saga, 849-8501, Japan.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Wakayama
authors.affiliation: Clinical Laboratory, The Medical School Hospital, Saga Medical School, Saga, 849-8501, Japan.
authors.forename: Yoshitomi
authors.initials: Y
authors.lastname: Tabata
authors.affiliation: Department of Internal Medicine, Saga Prefectural Hospital Koseikan, 1-12-9 Mizugae, Saga, 840-8571, Japan.
authors.forename: Shoichiro
authors.initials: S
authors.lastname: Shibata
authors.affiliation: Department of Internal Medicine, Saga Prefectural Hospital Koseikan, 1-12-9 Mizugae, Saga, 840-8571, Japan.
authors.forename: Hisashi
authors.initials: H
authors.lastname: Gondo
authors.affiliation: Department of Cardiovascular and Renal Medicine, Saga Medical School, Saga, 849-8501, Japan.
authors.forename: Ikuko
authors.initials: I
authors.lastname: Nakamura
authors.affiliation: Department of Cardiovascular and Renal Medicine, Saga Medical School, Saga, 849-8501, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Node
authors.affiliation: Department of Internal Medicine, Karatsu Red Cross Hospital, 1-5-1 Futago, Karatsu, Saga, 847-8588, Japan.
authors.forename: Masanori
authors.initials: M
authors.lastname: Miura
authors.affiliation: Department of Internal Medicine, Karatsu Red Cross Hospital, 1-5-1 Futago, Karatsu, Saga, 847-8588, Japan.
authors.forename: Masaharu
authors.initials: M
authors.lastname: Miyahara
authors.affiliation: Division of Hematology, Department of Medicine, Kurume University School of Medicine, Kurume, Fukuoka, 830-0011, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Okamura
authors.affiliation: Clinical Laboratory, The Medical School Hospital, Saga Medical School, Saga, 849-8501, Japan.
authors.forename: Fumio
authors.initials: F
authors.lastname: Nagumo
authors.affiliation: Department of Laboratory Medicine, Saga Medical School, Saga, 849-8501, Japan.
authors.forename: Shoichiro
authors.initials: S
authors.lastname: Ohta
authors.affiliation: 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.
authors.forename: Kenji
authors.initials: K
authors.lastname: Izuhara
mesh_terms: 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
chemical_list: D005165:Factor V