Compound Heterozygosity of the Protein S-Gene as a Cause of Severe Cerebral Sinovenous Thrombosis in a 7-Year-Old Child

Abstract

The genotype-phenotype relationship of compound heterozygous protein S-deficiency in a 7-year-old girl with reduced protein S-levels and a severe cerebral sinovenous thrombosis is illustrated. In this patient we identified a novel deletion in the protein S-gene causing a compound heterozygous state and subsequently a symptomatic protein S-deficiency. In case of thrombosis analysis of protein S is recommended. Low levels of protein S should be further investigated by molecular diagnostics.

Zusammenfassung

Dieser Artikel charakterisiert das Verhältnis von Genotyp zu Phänotyp bei Compound-heterozygotem Protein-S-Mangel bei einem Mädchen mit schwerer Sinusvenenthrombose und Protein-S-Mangel. Wir wiesen eine bisher unbekannte Deletion im Protein-S-Gen nach, die zu einer Compound-Heterozygotie und somit zu einem symptomatischen Protein-S-Mangel führte. Im Falle einer Thrombose wird die Bestimmung von Protein S empfohlen; wiederholt niedrige Werte für Protein S können molekulargenetisch abgeklärt werden.

Key words

sinovenous thrombosis - protein S-deficiency - thrombophilia - compound heterozygous mutations - missense mutation - deletion

Schlüsselwörter

Sinusvenenthrombose - Protein S-Mangel - Thrombophilie - Compound-heterozygote Mutationen - Missense-Mutation - Deletion

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Correspondence