[Genetic analysis of a pedigree affected with Bartter's syndrome].

Objective To explore the genetic basis for a pedigree affected with Bartter’s syndrome (BS). Methods Panel-based next-generation sequencing (NGS) was carried out to detect mutation in BS-related genes SLC12A1, KCNJ1, BSND and CLCNKB. Sanger sequencing of MAGED2 gene and chromosomal microarray analysis (CMA) were also performed on the patient. Suspected mutation was validated in her family members. Results No pathogenic mutation was detected by NGS, while a 0.152 Mb microdeletion at Xp11.21 (54 834 585-54 986 301) was found in the male fetus, which removed the entire coding region of the MAGED2 gene. His mother was a heterozygous carrier of the deletion. His father and sister did not carry the same deletion. Conclusion The loss of the MAGED2 gene may underlie the BS in this pedigree. Key words: Bartter’s syndrome; Deletion; MAGED2 gene