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

Kenji Kanda1, Shinji Kunishima2, Aya Sato1

  • 1Department of Pediatrics, Hikone Municipal Hospital, Shiga, Japan.

Human Genome Variation
|August 3, 2017
PubMed

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.

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