Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly

Porencephaly and schizencephaly are congenital brain disorders that can be caused by COL4A1 mutations, though the underlying mechanism and developmental processes are poorly understood. Here, we report a patient with schizencephaly, detected by fetal ultrasonography and fetal magnetic resonance imag...

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Autores principales: Sato, Yota, Shibasaki, Jun, Aida, Noriko, Hiiragi, Kazuya, Kimura, Yuichi, Akahira-Azuma, Moe, Enomoto, Yumi, Tsurusaki, Yoshinori, Kurosawa, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938052/
https://www.ncbi.nlm.nih.gov/pubmed/29760938
http://dx.doi.org/10.1038/s41439-018-0005-y
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author Sato, Yota
Shibasaki, Jun
Aida, Noriko
Hiiragi, Kazuya
Kimura, Yuichi
Akahira-Azuma, Moe
Enomoto, Yumi
Tsurusaki, Yoshinori
Kurosawa, Kenji
author_facet Sato, Yota
Shibasaki, Jun
Aida, Noriko
Hiiragi, Kazuya
Kimura, Yuichi
Akahira-Azuma, Moe
Enomoto, Yumi
Tsurusaki, Yoshinori
Kurosawa, Kenji
author_sort Sato, Yota
collection PubMed
description Porencephaly and schizencephaly are congenital brain disorders that can be caused by COL4A1 mutations, though the underlying mechanism and developmental processes are poorly understood. Here, we report a patient with schizencephaly, detected by fetal ultrasonography and fetal magnetic resonance imaging, with a de novo novel mutation in COL4A1 (c.2645_2646delinsAA, p.Gly882Glu). Our results suggest that the onset of damage that potentially results in schizencephaly occurs mid-pregnancy.
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spelling pubmed-59380522018-05-14 Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly Sato, Yota Shibasaki, Jun Aida, Noriko Hiiragi, Kazuya Kimura, Yuichi Akahira-Azuma, Moe Enomoto, Yumi Tsurusaki, Yoshinori Kurosawa, Kenji Hum Genome Var Data Report Porencephaly and schizencephaly are congenital brain disorders that can be caused by COL4A1 mutations, though the underlying mechanism and developmental processes are poorly understood. Here, we report a patient with schizencephaly, detected by fetal ultrasonography and fetal magnetic resonance imaging, with a de novo novel mutation in COL4A1 (c.2645_2646delinsAA, p.Gly882Glu). Our results suggest that the onset of damage that potentially results in schizencephaly occurs mid-pregnancy. Nature Publishing Group UK 2018-04-24 /pmc/articles/PMC5938052/ /pubmed/29760938 http://dx.doi.org/10.1038/s41439-018-0005-y Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, and provide a link to the Creative Commons license. You do not have permission under this license to share adapted material derived from this article or parts of it. 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, http://creativecommons.org/licenses/by-nc-nd/4.0/.
spellingShingle Data Report
Sato, Yota
Shibasaki, Jun
Aida, Noriko
Hiiragi, Kazuya
Kimura, Yuichi
Akahira-Azuma, Moe
Enomoto, Yumi
Tsurusaki, Yoshinori
Kurosawa, Kenji
Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
title Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
title_full Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
title_fullStr Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
title_full_unstemmed Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
title_short Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
title_sort novel col4a1 mutation in a fetus with early prenatal onset of schizencephaly
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938052/
https://www.ncbi.nlm.nih.gov/pubmed/29760938
http://dx.doi.org/10.1038/s41439-018-0005-y
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