Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.
Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly.
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DOI：
10.1038/s41439-018-0005-y
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发表时间：
2018
影响因子：
1.5
通讯作者：
Kurosawa K
中科院分区：
文献类型：
--
作者：
Sato Y;Shibasaki J;Aida N;Hiiragi K;Kimura Y;Akahira-Azuma M;Enomoto Y;Tsurusaki Y;Kurosawa K
脑穿通症和中脑畸形是由COL4A1突变引起的先天性脑部疾病，但其潜在机制和发育过程尚不清楚。在这里，我们报告了一个病人的中脑畸形，胎儿超声检查和胎儿磁共振成像检测，与从头新的突变COL4A1（c.2645_2646delinsAA，p.Gly882Glu）。我们的研究结果表明，损伤的发病可能导致脑回畸形发生在怀孕中期。
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.