Prenatal genetic testing for familial severe congenital protein C deficiency

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...

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Detalles Bibliográficos
Autores principales: Tairaku, Shinya, Taniguchi-Ikeda, Mariko, Okazaki, Yoko, Noguchi, Yoriko, Nakamachi, Yuji, Mori, Takeshi, Kubokawa, Ikuko, Hayakawa, Akira, Shibata, Akio, Emoto, Tomomi, Kurahashi, Hiroki, Toda, Tatsushi, Kawano, Seiji, Yamada, Hideto, Morioka, Ichiro, Iijima, Kazumoto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785544/
https://www.ncbi.nlm.nih.gov/pubmed/27081530
http://dx.doi.org/10.1038/hgv.2015.17
Descripción
Sumario: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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