Details

Autor(en) / Beteiligte

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

Titel

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

Ist Teil von

• Human genome variation, 2018-01, Vol.5 (1), p.4, Article 4

Ort / Verlag

England: Springer Nature B.V

Erscheinungsjahr

2018

Quelle

EZB Electronic Journals Library

Beschreibungen/Notizen

• Porencephaly and schizencephaly are congenital brain disorders that can be caused by 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 (c.2645_2646delinsAA, p.Gly882Glu). Our results suggest that the onset of damage that potentially results in schizencephaly occurs mid-pregnancy.