Transient Antenatal Bartter ’ s Syndrome , and MAGED 2 Mutations

METHODS To uncover the molecular cause of this possibly X-linked disease, we performed wholeexome sequencing of DNA from two members of the index family and targeted gene analysis of other members of this family and of six additional families with affected male fetuses. We also evaluated a series of women with idiopathic polyhydramnios who were pregnant with male fetuses. We performed immunohistochemical analysis, knockdown and overexpression experiments, and protein–protein interaction studies.