Author:
Yan Xu,Hu Yueyue,Zhang Xin,Gao Xia,Zhao Yang,Peng Haiying,Ouyang Liu,Zhang Changjun
Abstract
Abstract
Background
Antenatal Bartter syndrome is a life-threatening disease caused by a mutation in the MAGED2 gene located on chromosome Xp11. It is characterized by severe polyhydramnios and extreme prematurity. While most reported mutations are located in the exon region, variations in the intron region are rarely reported.
Methods
In our study, we employed whole exome sequencing and Sanger sequencing to genotype members of this family. Additionally, a minigene assay was conducted to evaluate the impact of genetic variants on splicing.
Results
Our findings reveal a novel intronic variant (NM_177433.3:c.1271 + 4_1271 + 7delAGTA) in intron 10 of the MAGED2 gene. Further analysis using the minigene assay demonstrated that this variant activated an intronic cryptic splice site, resulting in a 96 bp insertion in mature mRNA.
Conclusions
Our results indicate that the novel intronic variant (c.1271 + 4_1271 + 7delAGTA) in intron 10 of the MAGED2 gene is pathogenic. This expands the mutation spectrum of MAGED2 and highlights the significance of intronic sequence analysis.
Funder
The present study was funded by the Talent Research Starting Foundation, Hubei University of Medicine
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics