Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome

Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome

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 intro...

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Bibliographic Details
Main Authors: Xu Yan, Yueyue Hu, Xin Zhang, Xia Gao, Yang Zhao, Haiying Peng, Liu Ouyang, Changjun Zhang
Format: Article
Language:English
Published: BMC 2024-01-01
Series:BMC Medical Genomics
Subjects:
Antenatal Bartter syndrome
Whole exome sequencing
MAGED2
Intronic variant
Online Access:https://doi.org/10.1186/s12920-024-01797-8

Internet

https://doi.org/10.1186/s12920-024-01797-8

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