Severe homozygous protein C deficiency: Identification of a splice site missense mutation (184, Q→H) in exon 7 of the protein C gene

J. M. Soria, D. Brito, J. Barcelo, J. Fontcuberta, L. Botero, J. Maldonado, X. Estivill, N. Sala

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Abstract

Single strand conformation polymorphism (SSCP) analysis of exon 7 of the protein C gene has identified a novel splice site missense mutation (184, Q → H), in a newborn child with purpura fulminans and undetectable protein C levels. The mutation, seen in the homozygous state in the child and in the heterozygous state in her mother, was characterized and found to be a G to C nucleotide substitution at the -1 position of the donor splice site of intron 7 of the protein C gene, which changes histidine 184 for glutamine (184, Q → H). According to analysis of the normal and mutated sequences, this mutation should also abolish the function of the donor splice site of intron 7 of the protein C gene. Since such a mutation is compatible with the absence of gene product in plasma and since DNA sequencing of all protein C gene exons in this patient did not reveal any other mutation, we postulate that mutation 184, Q → H results in the absence of protein C gene product in plasma, which could be the cause of the severe phenotype observed in this patient.

Original languageEnglish
Pages (from-to)65-69
Number of pages5
JournalThrombosis and haemostasis
Volume72
Issue number1
Publication statusPublished - 1 Jan 1994

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ASJC Scopus subject areas

  • Hematology

Cite this

Soria, J. M., Brito, D., Barcelo, J., Fontcuberta, J., Botero, L., Maldonado, J., Estivill, X., & Sala, N. (1994). Severe homozygous protein C deficiency: Identification of a splice site missense mutation (184, Q→H) in exon 7 of the protein C gene. Thrombosis and haemostasis, 72(1), 65-69.