RGD Reference Report - Compound heterozygosity in a family with protein C deficiency illustrating the complexity of the underlying molecular mechanism. - Rat Genome Database

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Compound heterozygosity in a family with protein C deficiency illustrating the complexity of the underlying molecular mechanism.

Authors: Gandrille, S  Jude, B  Alhenc-Gelas, M  Millaire, A  Aiach, M 
Citation: Gandrille S, etal., Thromb Haemost. 1993 Nov 15;70(5):747-52.
RGD ID: 1578392
Pubmed: (View Article at PubMed) PMID:8128429

The association of two missense mutations, a Leu 223 to Phe and an Ile 403 to Met, is described in a family presenting with various protein C deficiency phenotypes. In this family, two subjects were compound heterozygotes with protein C levels of about 25%, the other members being heterozygous for only one of the mutations. The Leu 223 to Phe mutation was also found in 9 members of 3 other families and, in all cases but one, resulted in protein C levels below 60% associated with a high incidence of thrombotic complications. The other mutation, an Ile 403 to Met, was identified in those of the family' members who presented with borderline protein C concentrations. In such a family, the genomic DNA analysis represents the only way to differentiate between the genetic status of each family member. The results highlight the importance of the genotype determination and the poor discriminative power of the plasma assays currently used.



Disease Annotations    
protein C deficiency  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Proc  (protein C, inactivator of coagulation factors Va and VIIIa)

Genes (Mus musculus)
Proc  (protein C)

Genes (Homo sapiens)
PROC  (protein C, inactivator of coagulation factors Va and VIIIa)


Additional Information