Identification of simultaneous mutation of XXXX alpha chain and protein C genes in a Japanese kindred.

@entity1 @entity2002 @entity548 @entity535 @entity7131 @entity3459 @entity715
Afibrinogenaemia usually induces a @entity548 tendency during infancy, whereas @entity7131 increases susceptibility to @entity715 in @entity1 or adolescence. Mutations of these genes have been, therefore, established as independent risk factors for @entity3459 . We describe the homozygous mutation of the @entity2002 alpha chain gene and additional heterozygous mutation of the protein C gene in a male @entity1 who showed prolonged umbilical @entity548 after birth. On examination, the plasma @entity2002 was undetectable, and the activity and antigen level of protein C were reduced. The @entity1 showed no @entity2002 Aalpha chain as well as Bbeta and gamma chains by Western blotting. The sequencing analysis showed the homozygous deletion of 1238 bases from intron 3 at position 2008 to intron 4 at position 3245 in the @entity2002 alpha chain gene. Both parents were heterozygous carriers of this mutation. In this @entity1 , an additional mutation was also detected in the protein C gene: the heterozygous deletion of exon 7 at position 6161-6163 or 6164-6166, resulting the deletion of one @entity535 (Lys150 or 151). His mother was also a carrier of this mutation. As the simultaneous mutation of the @entity2002 alpha chain and protein C genes has not been previously reported, the influence of the interaction between these two mutations on the clinical manifestations of this @entity1 should be carefully monitored for a long period.
