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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.

SUBMITTER: Tairaku S

PROVIDER: S-EPMC4785544 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Prenatal genetic testing for familial severe congenital protein C deficiency.

Tairaku Shinya S Taniguchi-Ikeda Mariko M Okazaki Yoko Y Noguchi Yoriko Y Nakamachi Yuji Y Mori Takeshi T Kubokawa Ikuko I Hayakawa Akira A Shibata Akio A Emoto Tomomi T Kurahashi Hiroki H Toda Tatsushi T Kawano Seiji S Yamada Hideto H Morioka Ichiro I Iijima Kazumoto K

Human genome variation 20150625

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 ...[more]

PMID: 27081530

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Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound.

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Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.

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