title: Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype.
abstract: Bernard-Soulier syndrome is a rare (1:1million), hereditary bleeding disorder caused by defects of the platelet GPIb-IX-V complex. Patients suffer from mucocutaneous bleedings. Typical are thrombocytopenia, giant platelets and impaired agglutination after stimulation with ristocetin. In populations in which consanguineous marriages are common the frequency of the disorder is increased because Bernard-Soulier syndrome is mostly inherited autosomal recessively. Genetic analyses of the disease-related genes may help to gain more insights regarding the phenotype/genotype correlation. Here, we investigated several patients with Bernard-Soulier syndrome from different families. We analyzed two patients with severe bleeding symptoms from one family of middle east origin and confirmed the diagnosis by identifying a pathogenic variant in GP1BB. We compared phenotype/genotype correlation of this GP1BB mutation with the GP9 (p.Asn61Ser) European founder mutation present in 9 patients out of 4 families for whom we also performed molecular genetic analysis.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, Germany. Electronic address: doris.boeckelmann@uniklinik-freiburg.de.
authors.forename: D
authors.initials: D
authors.lastname: Boeckelmann
authors.affiliation: Department of Pediatrics, Division of Pediatric Hematology and Oncology, Ostschweizer Kinderspital, Switzerland.
authors.forename: H
authors.initials: H
authors.lastname: Hengartner
authors.affiliation: Institute for Immunology and Transfusion Medicine, University Medical Center, Greifswald, Germany.
authors.forename: A
authors.initials: A
authors.lastname: Greinacher
authors.affiliation: Institute of Clinical Chemistry, Thrombosis & Hemostasis Treatment Center, University Hospital Schleswig-Holstein, Campus Kiel & Lubbock, Germany.
authors.forename: U
authors.initials: U
authors.lastname: Nowak-Göttl
authors.affiliation: Institute for Clinical Immunology and Transfusion Medicine, Justus Liebig University, Giessen, Germany.
authors.forename: U J
authors.initials: UJ
authors.lastname: Sachs
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Peter
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Sandrock-Lang
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, Medical Center - University of Freiburg, Faculty of Medicine, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Zieger
mesh_terms: D000293:Adolescent; D000328:Adult; D001606:Bernard-Soulier Syndrome / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D001792:Blood Platelets / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005838:Genotype; D006470:Hemorrhage / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D010974:Platelet Aggregation; D010976:Platelet Count; D019038:Platelet Glycoprotein GPIb-IX Complex / Q000235:genetics
chemical_list: D019038:Platelet Glycoprotein GPIb-IX Complex; C094990:adhesion receptor
keywords: Bernard-Soulier syndrome; Bleeding phenotype; GP1BB mutation; GP9 European founder mutation