Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.

ABSTRACT:

Background

Bernard-Soulier syndrome is a severe bleeding disease due to a defect of GPIb/IX/V, a platelet complex that binds the von Willebrand factor. Due to the rarity of the disease, there are reports only on a few cases compromising any attempt to establish correlations between genotype and phenotype. In order to identify any associations, we describe the largest case series ever reported, which was evaluated systematically at the same center.

Design and methods

Thirteen patients with the disease and seven obligate carriers were enrolled. We collected clinical aspects and determined platelet features, including number and size, expression of membrane glycoproteins, and ristocetin induced platelet aggregation. Mutations were identified by direct sequencing of the GP1BA, G

SUBMITTER: Savoia A 

PROVIDER: S-EPMC3046273 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature