title: Prenatal genetic testing for familial severe congenital protein C deficiency.
abstract: Severe congenital protein C (PC) deficiency is an autosomal recessive hereditary thrombophilia caused by mutations in PROC. The case manifested severe purpura fulminans, intracranial thrombosis or hemorrhage within 4 days after birth, resulting in blindness. We report the identification of inherited compound heterozygous mutations, including a novel nonsense mutation in PROC, and a prenatal genetic test for a subsequent pregnancy. Prenatal diagnosis may facilitate preemptive and radical therapy for severe PC deficiency.
authors.affiliation: Department of Obstetrics and Gynecology, Kobe University Graduate School of Medicine, Kobe, Japan; Division of Genetic Counseling, Kobe University Hospital, Kobe, Japan.
authors.forename: Shinya
authors.initials: S
authors.lastname: Tairaku
authors.affiliation: Division of Genetic Counseling, Kobe University Hospital, Kobe, Japan; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Mariko
authors.initials: M
authors.lastname: Taniguchi-Ikeda
authors.affiliation: Department of Clinical Laboratory, Kobe University Hospital , Kobe, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Okazaki
authors.affiliation: Department of Clinical Laboratory, Kobe University Hospital , Kobe, Japan.
authors.forename: Yoriko
authors.initials: Y
authors.lastname: Noguchi
authors.affiliation: Department of Clinical Laboratory, Kobe University Hospital , Kobe, Japan.
authors.forename: Yuji
authors.initials: Y
authors.lastname: Nakamachi
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Mori
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Ikuko
authors.initials: I
authors.lastname: Kubokawa
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Hayakawa
authors.affiliation: Department of Pediatrics, Hyogo College of Medicine , Nishinomiya, Japan.
authors.forename: Akio
authors.initials: A
authors.lastname: Shibata
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Tomomi
authors.initials: T
authors.lastname: Emoto
authors.affiliation: Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University , Toyoake, Aichi, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kurahashi
authors.affiliation: Division of Genetic Counseling, Kobe University Hospital, Kobe, Japan; Department of Neurology/Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan.
authors.forename: Tatsushi
authors.initials: T
authors.lastname: Toda
authors.affiliation: Department of Medical Education, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Seiji
authors.initials: S
authors.lastname: Kawano
authors.affiliation: Department of Obstetrics and Gynecology, Kobe University Graduate School of Medicine, Kobe, Japan; Division of Genetic Counseling, Kobe University Hospital, Kobe, Japan.
authors.forename: Hideto
authors.initials: H
authors.lastname: Yamada
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Ichiro
authors.initials: I
authors.lastname: Morioka
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Kobe, Japan.
authors.forename: Kazumoto
authors.initials: K
authors.lastname: Iijima