Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly
Open Access
- 24 April 2018
- journal article
- research article
- Published by Springer Nature in Human Genome Variation
- Vol. 5 (1) , 4
Abstract
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.Keywords
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