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, Xavier P. Estivill, N. Sala

Research output: Contribution to journalArticle

10 Citations (Scopus)

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 - 1994
Externally publishedYes

Fingerprint

Protein C Deficiency
Missense Mutation
Protein C
Exons
Mutation
Genes
RNA Splice Sites
Introns
Purpura Fulminans
Glutamine
DNA Sequence Analysis
Histidine
Nucleotides
Mothers
Newborn Infant
Phenotype

ASJC Scopus subject areas

  • Hematology

Cite this

Soria, J. M., Brito, D., Barcelo, J., Fontcuberta, J., Botero, L., Maldonado, J., ... 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.

Severe homozygous protein C deficiency : Identification of a splice site missense mutation (184, Q→H) in exon 7 of the protein C gene. / Soria, J. M.; Brito, D.; Barcelo, J.; Fontcuberta, J.; Botero, L.; Maldonado, J.; Estivill, Xavier P.; Sala, N.

In: Thrombosis and Haemostasis, Vol. 72, No. 1, 1994, p. 65-69.

Research output: Contribution to journalArticle

Soria, JM, Brito, D, Barcelo, J, Fontcuberta, J, Botero, L, Maldonado, J, Estivill, XP & 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, vol. 72, no. 1, pp. 65-69.
Soria, J. M. ; Brito, D. ; Barcelo, J. ; Fontcuberta, J. ; Botero, L. ; Maldonado, J. ; Estivill, Xavier P. ; Sala, N. / Severe homozygous protein C deficiency : Identification of a splice site missense mutation (184, Q→H) in exon 7 of the protein C gene. In: Thrombosis and Haemostasis. 1994 ; Vol. 72, No. 1. pp. 65-69.
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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.",
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AU - Barcelo, J.

AU - Fontcuberta, J.

AU - Botero, L.

AU - Maldonado, J.

AU - Estivill, Xavier P.

AU - Sala, N.

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N2 - 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.

AB - 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.

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