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  • Title: Severe bleeding tendency in a patient with Bernard-Soulier syndrome associated with a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ibalpha.
    Author: Mitsui T, Yokoyama S, Yazaki N, Hayashi T, Suzuki K, Shimizu Y, Kawakami T, Kanazawa C, Katsuura M, Ikegami T, Hayasaka K.
    Journal: J Pediatr Hematol Oncol; 1998; 20(3):246-51. PubMed ID: 9628437.
    Abstract:
    PURPOSE: The genetic basis of Bernard-Soulier syndrome (BSS) was studied to clarify a relationship between severe clinical manifestations and gene abnormality. PATIENT AND METHODS: A patient with BSS had a severe bleeding tendency that was sometimes life threatening. Flow cytometric analysis of the patient's and normal control platelets was performed to study which glycoprotein (GP) was impaired in glycoprotein Ib/V/IX complex. The genes encoding GPIbalpha from the patient's and control genomic DNA were amplified and directly sequenced. RESULTS: Flow cytometric analysis revealed a defect of GPIbalpha on the surface of the patient's platelets. A homozygous single base pair deletion was identified in seven repeats of adenine at positions 1932 to 1938 in the GPIbalpha gene. This mutation, which has been previously reported, results in a frameshift and predicts a premature stop codon leading to a truncated peptide that cannot fix on the platelet membrane. CONCLUSION: This patient's severe clinical phenotype would be explained by this mutation in the GPIbalpha gene.
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