@article{article_546845, title={Syndrome: A Single Center Experience Clinical and Genotypic Findings in Patients with Bernard Soulier}, journal={Türkiye Çocuk Hastalıkları Dergisi}, volume={11}, pages={51–55}, year={2017}, author={Tokgöz, Hüseyin and Çalışkan, Ümran}, keywords={Bernard Soulier Syndrome, Mutation}, abstract={Objective: The Bernard Soulier Syndrome (BSS) is an inherited bleeding disorder characterized by macrothrombocytopenia and prolonged bleeding time. BSS results from the dysfunction or absence of GpIb/V/IX complex, which mediates platelet adhesion to a damaged vascular wall, on the platelet surface. In this study, we evaluated the clinical and laboratory findings and mutation analysis in patients with BSS followed at our center.Material and Methods: The study included seven BSS followed at the Meram Faculty of Medicine, Department of Pediatric Hematology. Clinical and laboratory findings were obtained from the medical records of the patients. DNA isolation, polymerase chain reaction, DNA purification and DNA sequence analysis were used to determine mutation analysis. Obtained DNA samples investigated for GP1BA (NM_000173.4), GP1BB (NM_000407.4), and GP9 (NM_000174.3) mutations. Fischer’s exact test was used for the comparison of ratios.results: The ages of patients were varied from 8.5 years to 29 years (median 24 years). All of the patients were females. Age at diagnosis was varied from 7 months to 8 years (median 30 months). Bleeding phenotypes of the patients were as follows: epistaxis (71%), gum bleeding (71%), cutaneous bleeding (43%), menorrhagia (71%), gastrointestinal bleeding (28%), visceral bleeding (14%), and bleeding after surgery (5%). All of the patients had macrothrombocytopenia, and decreased aggregation response to ristocetin and normal response to ADP, epinephrine and collagen in platelet function tests. In flow cytometric analysis, expression of the GpIb/V/IX complex on platelet surface was low in 6 patients and normal in one patient. Six patients had GP1BB mutations [homozygous c.233T>G, p.Leu78Arg and c.[470T>A(+)472_473del(CT)] (p.Leu157GlnfsX151)] whereas one patient had the GP1BB mutation (homozygous c.1A>C). There was no correlation between clinical findings and mutation types (p>0.05). Conclusion: Clinical and laboratory findings and mutation analysis of patients with BSS were evaluated in this study. Mucocutaneous bleeding is an important problem for patients with BSS. Girls may need a blood transfusion during menstruation. The mutations described in this study are novel mutations. This study will contribute to the literature because of the newly identified mutations in BSS patients. Comprehensive studies are needed to determine the relationship between clinical and genotypic findings of BSS patients.}, number={1}, publisher={T.C. Sağlık Bakanlığı Ankara Şehir Hastanesi}