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

研究成果: ジャーナルへの寄稿 › 学術論文 › 査読

8 被引用数 (Scopus)

抄録

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.

本文言語	英語
論文番号	15017
ジャーナル	Human Genome Variation
巻	2
号	1
DOI	https://doi.org/10.1038/HGV.2015.17
出版ステータス	出版済み - 2015

All Science Journal Classification (ASJC) codes

生化学
分子生物学
遺伝学

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10.1038/HGV.2015.17

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引用スタイル

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), 記事 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.",

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

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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

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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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Prenatal genetic testing for familial severe congenital protein Cdeficiency

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