Compound heterozygosity for one novel and one recurrent mutation in a Thai patient with severe protein S deficiency
| Autor: | P, Pung-amritt, S R, Poort, H L, Vos, R M, Bertina, C, Mahasandana, V S, Tanphaichitr, G, Veerakul, S, Kankirawatana, V, Suvatte |
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| Rok vydání: | 1999 |
| Předmět: |
Endophthalmitis
Heterozygote Protein S Deficiency IgA Vasculitis DNA Mutational Analysis Infant Newborn Exons Disseminated Intravascular Coagulation Blindness Thailand Protein S Fetal Diseases Gene Frequency Risk Factors Retinal Vein Occlusion Humans Point Mutation Thrombophilia Female Genetic Predisposition to Disease Codon Alleles |
| Zdroj: | Thrombosis and haemostasis. 81(2) |
| ISSN: | 0340-6245 |
| Popis: | 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 PROS 1 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 PROS 1 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. |
| Databáze: | OpenAIRE |
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