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Sandrock K, Knöfler R, Greinacher A, et al. Novel Mutation in Bernard-Soulier Syndrome. Transfus Med Hemother. 2010;37(5):278-284doi: 10.1159/000320255.
Sandrock, K., Knöfler, R., Greinacher, A., Fürll, B., Gerisch, S., Schuler, U., Gehrisch, S., Busse, A., & Zieger, B. (2010). Novel Mutation in Bernard-Soulier Syndrome. Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie, 37(5), 278-284. https://doi.org/10.1159/000320255
Sandrock, Kirstin, et al. "Novel Mutation in Bernard-Soulier Syndrome." Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie vol. 37,5 (2010): 278-284. doi: https://doi.org/10.1159/000320255
Sandrock K, Knöfler R, Greinacher A, Fürll B, Gerisch S, Schuler U, Gehrisch S, Busse A, Zieger B. Novel Mutation in Bernard-Soulier Syndrome. Transfus Med Hemother. 2010;37(5):278-284. doi: 10.1159/000320255. Epub 2010 Sep 15. PMID: 21113250; PMCID: PMC2980512.
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Transfus Med Hemother. 2010;37(5):278-284. doi: 10.1159/000320255. Epub 2010 Sep 15.

Novel Mutation in Bernard-Soulier Syndrome.

Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie

Kirstin Sandrock, Ralf Knöfler, Andreas Greinacher, Birgitt Fürll, Sebastian Gerisch, Ulrich Schuler, Siegmund Gehrisch, Anja Busse, Barbara Zieger

Affiliations

  1. Department of Pediatrics and Adolescent Medicine, University of Freiburg, Freiburg i.Br., Germany.

PMID: 21113250 PMCID: PMC2980512 DOI: 10.1159/000320255

Abstract

BACKGROUND: Bernard-Soulier syndrome (BSS) is a severe congenital bleeding disorder characterized by thrombocytopenia, thrombocytopathy and decreased platelet adhesion. BSS results from genetic alterations of the glycoprotein (GP) Ib/IX/V complex. METHODS: We report on a patient demonstrating typical BSS phenotype (thrombocytopenia with giant platelets, bleeding symptoms). However, BSS was not diagnosed until he reached the age of 39 years. RESULTS: Flow cytometry of the patient's platelets revealed absence of GPIb/IX/V receptor surface expression. In addition, immunofluorescence analysis of patient's platelets demonstrated very faint staining of GPIX. A novel homozygous deletion comprising 11 nucleotides starting at position 1644 of the GPIX gene was identified using molecular genetic analysis. CONCLUSIONS: The novel 11-nucleotide deletion (g.1644_1654del11) was identified as causing the bleeding disorder in the BSS patient. This homozygous deletion includes the last 4 nucleotides of the Kozak sequence as well as the start codon and the following 4 nucleotides of the coding sequence. The Kozak sequence is a region indispensable for the initiation of the protein translation process, thus preventing synthesis of functional GPIX protein in the case of deletion.

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