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

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 r...

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Detalles Bibliográficos
Autores principales: Kanda, Kenji, Kunishima, Shinji, Sato, Aya, Abe, Daisuke, Nishijima, Setsuko, Ishigami, Tsuyoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529668/
https://www.ncbi.nlm.nih.gov/pubmed/28765788
http://dx.doi.org/10.1038/hgv.2017.30
Descripción
Sumario: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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