XXXX with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene.

@entity1 @entity154 @entity3742 @entity548 @entity882 @entity1423 @entity31088 @entity8325 @entity22324
We report a family with @entity3742 with a homozygous mutation within the @entity31088 gene. The proband was a 24-year-old Japanese male who has suffered from life-long @entity548 tendency. The @entity1 's sister also had severe @entity548 episodes. The proband and the affected sister had no apparent complications including @entity154 , or mental disturbance. They had @entity882 [(35-40) x 10(9)/l] with giant platelets. In addition to platelet size, electron microscopic analysis revealed abnormalities in the internal structures of platelets. @entity8325 -induced @entity1423 was defective. Flow cytometric analysis and western blot analysis showed that glycoprotein IX was nearly absent in platelets, whereas GPIb(alpha) and @entity22324 were detectable. Genetic studies revealed a 13 base pair deletion in the signal peptide-coding sequence of @entity31088 . The deletion would cause a frame-shift, resulting in the appearance of a stop codon following an indifferent polypeptide sequence. Analysis of platelet RNA showed that the mutant @entity31088 gene was transcribed. The propositus and his affected sister were homozygous for the deletion, whereas their unaffected father and mother were heterozygotes. The molecular defects of this family would help understand the relevance of @entity31088 for complex formation of the glycoprotein Ib/IX/V receptor.
