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
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author Kanda, Kenji
Kunishima, Shinji
Sato, Aya
Abe, Daisuke
Nishijima, Setsuko
Ishigami, Tsuyoshi
author_facet Kanda, Kenji
Kunishima, Shinji
Sato, Aya
Abe, Daisuke
Nishijima, Setsuko
Ishigami, Tsuyoshi
author_sort Kanda, Kenji
collection PubMed
description 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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spelling pubmed-55296682017-08-01 A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations Kanda, Kenji Kunishima, Shinji Sato, Aya Abe, Daisuke Nishijima, Setsuko Ishigami, Tsuyoshi Hum Genome Var Data Report 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. Nature Publishing Group 2017-07-27 /pmc/articles/PMC5529668/ /pubmed/28765788 http://dx.doi.org/10.1038/hgv.2017.30 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Kanda, Kenji
Kunishima, Shinji
Sato, Aya
Abe, Daisuke
Nishijima, Setsuko
Ishigami, Tsuyoshi
A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations
title A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations
title_full A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations
title_fullStr A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations
title_full_unstemmed A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations
title_short A Brazilian case of Bernard–Soulier syndrome with two distinct founder mutations
title_sort brazilian case of bernard–soulier syndrome with two distinct founder mutations
topic Data Report
url 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
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