Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5

Diamond-Blackfan anemia (DBA) is an inherited anemia with multiple congenital malformations, and mutations in ribosomal protein genes have been identified as the underlying cause. We describe a female patient with mild DBA due to 1p22 deletion, encompassing the gene encoding 60S ribosomal protein L5...

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Autores principales: Tominaga, Makiko, Hamanoue, Satoshi, Goto, Hiroaki, Saito, Toshiyuki, Nagai, Jun-ichi, Masuno, Mitsuo, Umeda, You, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804687/
https://www.ncbi.nlm.nih.gov/pubmed/31645974
http://dx.doi.org/10.1038/s41439-019-0067-5
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author Tominaga, Makiko
Hamanoue, Satoshi
Goto, Hiroaki
Saito, Toshiyuki
Nagai, Jun-ichi
Masuno, Mitsuo
Umeda, You
Kurosawa, Kenji
author_facet Tominaga, Makiko
Hamanoue, Satoshi
Goto, Hiroaki
Saito, Toshiyuki
Nagai, Jun-ichi
Masuno, Mitsuo
Umeda, You
Kurosawa, Kenji
author_sort Tominaga, Makiko
collection PubMed
description Diamond-Blackfan anemia (DBA) is an inherited anemia with multiple congenital malformations, and mutations in ribosomal protein genes have been identified as the underlying cause. We describe a female patient with mild DBA due to 1p22 deletion, encompassing the gene encoding 60S ribosomal protein L5 (RPL5). Considering previously reported cases together with our patient, we suggest that RPL5 haploinsufficiency might cause a less severe form of DBA than loss-of-function mutations.
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spelling pubmed-68046872019-10-23 Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5 Tominaga, Makiko Hamanoue, Satoshi Goto, Hiroaki Saito, Toshiyuki Nagai, Jun-ichi Masuno, Mitsuo Umeda, You Kurosawa, Kenji Hum Genome Var Data Report Diamond-Blackfan anemia (DBA) is an inherited anemia with multiple congenital malformations, and mutations in ribosomal protein genes have been identified as the underlying cause. We describe a female patient with mild DBA due to 1p22 deletion, encompassing the gene encoding 60S ribosomal protein L5 (RPL5). Considering previously reported cases together with our patient, we suggest that RPL5 haploinsufficiency might cause a less severe form of DBA than loss-of-function mutations. Nature Publishing Group UK 2019-08-08 /pmc/articles/PMC6804687/ /pubmed/31645974 http://dx.doi.org/10.1038/s41439-019-0067-5 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Tominaga, Makiko
Hamanoue, Satoshi
Goto, Hiroaki
Saito, Toshiyuki
Nagai, Jun-ichi
Masuno, Mitsuo
Umeda, You
Kurosawa, Kenji
Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5
title Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5
title_full Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5
title_fullStr Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5
title_full_unstemmed Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5
title_short Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5
title_sort diamond-blackfan anemia caused by chromosome 1p22 deletion encompassing rpl5
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804687/
https://www.ncbi.nlm.nih.gov/pubmed/31645974
http://dx.doi.org/10.1038/s41439-019-0067-5
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