Prenatal genetic testing for familial severe congenital protein Cdeficiency

Shinya Tairaku, Mariko Taniguchi-Ikeda, Yoko Okazaki, Yoriko Noguchi, Yuji Nakamachi, Takeshi Mori, Ikuko Kubokawa, Akira Hayakawa, Akio Shibata, Tomomi Emoto, Hiroki Kurahashi, Tatsushi Toda, Seiji Kawano, Hideto Yamada, Ichiro Morioka, Kazumoto Iijima

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)

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.

Original languageEnglish
Article number15017
JournalHuman Genome Variation
Volume2
Issue number1
DOIs
Publication statusPublished - 2015
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics

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