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Thromb Haemost 1999; 81(02): 189-192
DOI: 10.1055/s-0037-1614440
DOI: 10.1055/s-0037-1614440
Review Articles
Compound Heterozygosity for One Novel and One Recurrent Mutation in a Thai Patient with Severe Protein S Deficiency
We wish to thank Mrs. M.J. Mentink and Mrs. E.G. van Duijnen for skilful typing of the manuscript. We also express our thanks to the patient with her family and the normal Thai volunteers who participated in our study. The molecular studies were performed in the Hemostasis and Thrombosis Research Center, Department of Hematology, Leiden University Medical Center (LUMC), The Netherlands. This work was supported by the Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Weitere Informationen
Publikationsverlauf
Received09. Juli 1998
Accepted after revision22. September 1998
Publikationsdatum:
08. Dezember 2017 (online)
Summary
Homozygous or compound heterozygous protein S (PS) deficiency is a very rare disorder in the anticoagulant system, that can lead to life-threatening thrombotic complications shortly after birth. This report describes the results of the genetic analysis of the PROS1 genes in a Thai girl patient. She was reported in 1990 as the first case with homozygous PS deficiency and neonatal purpura fulminans. In the present report, we identified the mutations in this patient by direct sequencing of PCR products representing all 15 exons of the PROS1 gene and their flanking intronic regions. The patient turned out to be compound heterozygous for two null mutations. One allele contained a novel sequence variation, an A-insertion in an A5-tract covering codon 146 and 147, that results in a frameshift and a stop codon (TAA) at position 155. The other allele contained a nonsense mutation in exon 12 by a transition at codon 410 CGA (Arg) to TGA (stop). Cosegregation of PS deficiency with these two genetic defects was observed in her family.
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