A Brazilian case of Bernard-Soulier syndrome with two distinct founder mutations.

ABSTRACT: Bernard-Soulier syndrome (BSS) is a rare bleeding disorder of autosomal recessive inheritance characterized by macrothrombocytopenia. We report the case of a 14-year-old girl diagnosed with BSS who is a fourth-generation Brazilian of Japanese descent and has a compound heterozygote mutation as the responsible gene. The compound heterozygosity would have occurred from the global and long-term racial migration that brought about an accidental encounter of two rare mutant alleles of different origins.

SUBMITTER: Kanda K 

PROVIDER: S-EPMC5529668 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature