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

doi:10.1038/HGV.2015.17

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 journal › Article › peer-review

8 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 language	English
Article number	15017
Journal	Human Genome Variation
Volume	2
Issue number	1
DOIs	https://doi.org/10.1038/HGV.2015.17
Publication status	Published - 2015

All Science Journal Classification (ASJC) codes

Biochemistry
Molecular Biology
Genetics

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10.1038/HGV.2015.17

Cite this

Tairaku, S., Taniguchi-Ikeda, M., Okazaki, Y., Noguchi, Y., Nakamachi, Y., Mori, T., Kubokawa, I., Hayakawa, A., Shibata, A., Emoto, T., Kurahashi, H., Toda, T., Kawano, S., Yamada, H., Morioka, I., & Iijima, K. (2015). Prenatal genetic testing for familial severe congenital protein Cdeficiency. Human Genome Variation, 2(1), Article 15017. https://doi.org/10.1038/HGV.2015.17

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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.",

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AU - Tairaku, Shinya

AU - Taniguchi-Ikeda, Mariko

AU - Okazaki, Yoko

AU - Noguchi, Yoriko

AU - Nakamachi, Yuji

AU - Mori, Takeshi

AU - Kubokawa, Ikuko

AU - Hayakawa, Akira

AU - Shibata, Akio

AU - Emoto, Tomomi

AU - Kurahashi, Hiroki

AU - Toda, Tatsushi

AU - Kawano, Seiji

AU - Yamada, Hideto

AU - Morioka, Ichiro

AU - Iijima, Kazumoto

PY - 2015

Y1 - 2015

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AB - 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.

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UR - https://www.scopus.com/pages/publications/85019637273#tab=citedBy

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DO - 10.1038/HGV.2015.17

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JO - Human Genome Variation

JF - Human Genome Variation

IS - 1

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ER -

Prenatal genetic testing for familial severe congenital protein Cdeficiency

Abstract

All Science Journal Classification (ASJC) codes

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