Dataset Information
Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.
Ontology highlight
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.
SUBMITTER: Yan X
PROVIDER: S-EPMC10795325 | biostudies-literature | 2024 Jan
REPOSITORIES: biostudies-literature
Publications
Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.
BMC medical genomics 20240118 1
<h4>Background</h4>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.<h4>Methods</h4>In our study, we employed whole exome sequencing and Sanger sequencing to genotype members of this family. Additionally, a minigene assay was conducted to e ...[more]