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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Published in:Human genome variation 2018-04, Vol.5 (1), p.4, Article 4
Main Authors: Sato, Yota, Shibasaki, Jun, Aida, Noriko, Hiiragi, Kazuya, Kimura, Yuichi, Akahira-Azuma, Moe, Enomoto, Yumi, Tsurusaki, Yoshinori, Kurosawa, Kenji
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631/208/1516/1510
692/308/2056
Biomedical and Life Sciences
Biomedicine
Data Report
Gene Expression
Gene Function
Gene Therapy
Human Genetics
Molecular Medicine
Mutation
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creator Sato, Yota
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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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subjects 631/208/1516/1510
692/308/2056
Biomedical and Life Sciences
Biomedicine
Data Report
Gene Expression
Gene Function
Gene Therapy
Human Genetics
Molecular Medicine
Mutation
title Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
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