Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations

Genetic causes of undiagnosed hemolytic anemia in nineteen patients were analyzed by whole-exome sequencing, and novel COL4A1 variants were identified in four patients (21%). All patients were complicated with congenital malformations of the brain, such as porencephaly or schizencephaly. In these pa...

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Autores principales: Ogura, Hiromi, Ohga, Shouichi, Aoki, Takako, Utsugisawa, Taiju, Takahashi, Hidehiro, Iwai, Asayuki, Watanabe, Kenichiro, Okuno, Yusuke, Yoshida, Kenichi, Ogawa, Seishi, Miyano, Satoru, Kojima, Seiji, Yamamoto, Toshiyuki, Yamamoto-Shimojima, Keiko, Kanno, Hitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7695726/
https://www.ncbi.nlm.nih.gov/pubmed/33298904
http://dx.doi.org/10.1038/s41439-020-00130-w
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author Ogura, Hiromi
Ohga, Shouichi
Aoki, Takako
Utsugisawa, Taiju
Takahashi, Hidehiro
Iwai, Asayuki
Watanabe, Kenichiro
Okuno, Yusuke
Yoshida, Kenichi
Ogawa, Seishi
Miyano, Satoru
Kojima, Seiji
Yamamoto, Toshiyuki
Yamamoto-Shimojima, Keiko
Kanno, Hitoshi
author_facet Ogura, Hiromi
Ohga, Shouichi
Aoki, Takako
Utsugisawa, Taiju
Takahashi, Hidehiro
Iwai, Asayuki
Watanabe, Kenichiro
Okuno, Yusuke
Yoshida, Kenichi
Ogawa, Seishi
Miyano, Satoru
Kojima, Seiji
Yamamoto, Toshiyuki
Yamamoto-Shimojima, Keiko
Kanno, Hitoshi
author_sort Ogura, Hiromi
collection PubMed
description Genetic causes of undiagnosed hemolytic anemia in nineteen patients were analyzed by whole-exome sequencing, and novel COL4A1 variants were identified in four patients (21%). All patients were complicated with congenital malformations of the brain, such as porencephaly or schizencephaly. In these patients, hemolysis became less severe within 2 months after birth, and red cell transfusion was no longer required after 50 days, whereas chronic hemolysis continued.
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spelling pubmed-76957262020-11-30 Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations Ogura, Hiromi Ohga, Shouichi Aoki, Takako Utsugisawa, Taiju Takahashi, Hidehiro Iwai, Asayuki Watanabe, Kenichiro Okuno, Yusuke Yoshida, Kenichi Ogawa, Seishi Miyano, Satoru Kojima, Seiji Yamamoto, Toshiyuki Yamamoto-Shimojima, Keiko Kanno, Hitoshi Hum Genome Var Data Report Genetic causes of undiagnosed hemolytic anemia in nineteen patients were analyzed by whole-exome sequencing, and novel COL4A1 variants were identified in four patients (21%). All patients were complicated with congenital malformations of the brain, such as porencephaly or schizencephaly. In these patients, hemolysis became less severe within 2 months after birth, and red cell transfusion was no longer required after 50 days, whereas chronic hemolysis continued. Nature Publishing Group UK 2020-11-27 /pmc/articles/PMC7695726/ /pubmed/33298904 http://dx.doi.org/10.1038/s41439-020-00130-w Text en © The Author(s) 2020 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
Ogura, Hiromi
Ohga, Shouichi
Aoki, Takako
Utsugisawa, Taiju
Takahashi, Hidehiro
Iwai, Asayuki
Watanabe, Kenichiro
Okuno, Yusuke
Yoshida, Kenichi
Ogawa, Seishi
Miyano, Satoru
Kojima, Seiji
Yamamoto, Toshiyuki
Yamamoto-Shimojima, Keiko
Kanno, Hitoshi
Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations
title Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations
title_full Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations
title_fullStr Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations
title_full_unstemmed Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations
title_short Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations
title_sort novel col4a1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7695726/
https://www.ncbi.nlm.nih.gov/pubmed/33298904
http://dx.doi.org/10.1038/s41439-020-00130-w
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