Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency.

Article Details

Citation

Poort SR, Pabinger-Fasching I, Mannhalter C, Reitsma PH, Bertina RM

Twelve novel and two recurrent mutations in 14 Austrian families with hereditary protein C deficiency.

Blood Coagul Fibrinolysis. 1993 Apr;4(2):273-80.

PubMed ID
8499565 [ View in PubMed
]
Abstract

The molecular basis of hereditary type I and type II protein C deficiency was studied in a panel of 14 unrelated Austrian families. By direct sequencing of the nine exons and their splice junctions sequence alterations were found in one of the protein C alleles in all but one subject. In twelve subjects a single alteration was found whereas in one subject one of the protein C alleles carried two sequence abnormalities. Whenever DNA from family members was available (11 of the 14 cases) cosegregation of the protein C deficiency with the mutation was observed. In contrast to what has been found previously in a panel of Dutch patients with hereditary protein C deficiency, none of the 14 mutations occurred in more than one family. Only two of the genetic defects (157Arg-->Stop and 178Arg-->Gln) have been found previously in other geographic locations. These data confirm the large genetic heterogeneity of protein C deficiency.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Vitamin K-dependent protein CP04070Details