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

Yota Sato; Jun Shibasaki; Noriko Aida; Kazuya Hiiragi; Yuichi Kimura; Moe Akahira-Azuma; Yumi Enomoto; Yoshinori Tsurusaki; Kenji Kurosawa

doi:10.1038/s41439-018-0005-y

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

Hum Genome Var. 2018 Apr 24:5:4. doi: 10.1038/s41439-018-0005-y. eCollection 2018.

Authors

Yota Sato¹, Jun Shibasaki², Noriko Aida³, Kazuya Hiiragi⁴, Yuichi Kimura⁵, Moe Akahira-Azuma¹, Yumi Enomoto⁵, Yoshinori Tsurusaki⁵, Kenji Kurosawa¹

Affiliations

¹ 1Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
² 2Department of Neonatology, Kanagawa Children's Medical Center, Yokohama, Japan.
³ 3Department of Radiology, Kanagawa Children's Medical Center, Yokohama, Japan.
⁴ 4Department of Obstetrics and Gynecology, Kanagawa Children's Medical Center, Yokohama, Japan.
⁵ 5Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.

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.

Publication types

Case Reports