A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy

Millar, David Stuart, Allgrove, J., Rodeck, C., Kakkar, V. V. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 1994. A homozygous deletion/insertion mutation in the protein C (PROC) gene causing neonatal Purpura fulminans: prenatal diagnosis in an at-risk pregnancy. Blood Coagulation and Fibrinolysis 5 (4) , pp. 647-649.

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Abstract

A novel homozygous mutation in the protein C (PROC) gene was detected in an individual with severe type I protein C deficiency who presented with neonatal Purpura fulminans. The deletion/insertion mutation found [3351del4, 3350insA] resulted in an Asn102-->Lys substitution and the removal of codon Gly103. First trimester prenatal diagnosis was performed in a subsequent pregnancy by chorionic villus sampling and PCR/direct sequencing; the foetus was shown to be heterozygous for the lesion. This diagnosis was confirmed phenotypically after the birth of a clinically healthy child.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Schools > Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Lippincott, Williams & Wilkins
ISSN:	0957-5235
Last Modified:	06 May 2023 01:16
URI:	https://orca.cardiff.ac.uk/id/eprint/62095

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