Case Report ARTICLE
Whole-exome sequencing revealed mutations of MED12 and EFNB1 in fetal agenesis of the corpus callosum
- 1Women's Hospital, School of Medicine, Zhejiang University, China
Agenesis of the corpus callosum (ACC) is a birth defect in which the corpus callosum is either partially or completely missing. With recent advances in prenatal ultrasound, detection of ACC in obstetric practices is becoming more common. Etiologies of ACC includes chromosome errors, genetic factors, prenatal infections, and other factors related to the prenatal environment. In an effort to elucidate more about the genetic influence in the pathogenesis of ACC, we identified, through whole-exome sequencing (WES), two gene mutations in two families with complete agenesis of the corpus callosum. These two mutations located on chromosome X, one is a hemizygous missense mutation c. 3746T>C (p. L1249P) in the gene mediator complex subunit 12 (MED12), the other one is a heterozygous missense mutation c. 128+5G >C in gene ephrin B1 (EFNB1). Historically, early diagnosis of complete ACC during pregnancy has been difficult; however, WES has provided us with a creative avenue of diagnosis, combining identification of genetic mutations with prenatal imaging.
Keywords: Whole-exome sequencing, de novo mutation, fetal agenesis of the corpus callosum, Sanger sequencing, Prenatal Diagnosis
Received: 09 Jun 2019;
Accepted: 30 Oct 2019.
Copyright: © 2019 Jiang, Qian, Yang, Zhan, Chen, Xi, Dong, Luo and Zhao. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Mx. Qiong Luo, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, 310003, Zhejiang Province, China, email@example.com