Duebgen, Sebastian and Kauke, Teresa and Marschall, Christoph and Giebl, Andreas and Lison, Susanne and Hart, Christina and Dick, Andrea and Spannagl, Michael (2012) Genotype and Laboratory and Clinical Phenotypes of Protein S Deficiency. AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 137 (2). pp. 178-184. ISSN 0002-9173,
Full text not available from this repository.Abstract
The diagnosis of thrombophilia caused by protein S deficiency remains difficult. From 2005 to 2010, we documented 135 patients with suspected hereditary protein S deficiency for whom mutational analysis of the PROS 1 gene had been performed by direct double-stranded sequencing of the amplified 15 exons including splice sites. Multiplex ligation-dependent probe amplification was performed on 12 of 15 exons in cases with no mutation found but a large deletion in the PROS 1 gene was suspected. Mutations were identified in 49 patients, 9 by familial screening. Altogether, 17 new and 11 previously described mutations of PROS 1 were identified among the 49 patients. After the exclusion of acquired protein S deficiency due to pregnancy or hormonal contraceptives, there remained only 1 case with protein S activity levels less than 40% that could not be explained by sequence variations or deletions in the examined regions of the PROS1 gene. After the exclusion of conditions associated with acquired protein S deficiency, persistently low protein S activity levels are highly indicative of a genetic alteration in PROS1. We observed a clear correlation between the laboratory phenotype and the type of mutation.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | PATENT FORAMEN OVALE; YOUNG STROKE PATIENTS; POINT MUTATIONS; MOLECULAR-BASIS; FREQUENT MUTATION; PROS1 GENE; FACTOR-V; FAMILIES; IDENTIFICATION; THROMBOPHILIA; Protein S deficiency; PROS1; Genotype; Phenotype; Laboratory assessment |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Innere Medizin III (Hämatologie und Internistische Onkologie) |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 22 May 2020 05:01 |
| Last Modified: | 22 May 2020 05:01 |
| URI: | https://pred.uni-regensburg.de/id/eprint/19328 |
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