Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.

ABSTRACT:

Background and objectives

Mutations in the MAGED2 gene, located on the X chromosome, have been recently detected in males with a transient form of antenatal Bartter syndrome or with idiopathic polyhydramnios. The aim of this study is to analyze the proportion of the population with mutations in this gene in a French cohort of patients with antenatal Bartter syndrome.

Design, setting, participants, & measurements

The French cohort of patients with antenatal Bartter syndrome encompasses 171 families. Mutations in genes responsible for types 1-4 have been detected in 75% of cases. In patients without identified genetic cause (n=42), transient antenatal Bartter syndrome was reported in 12 cases. We analyzed the MAGED2 gene in the entire cohort of negative ca

SUBMITTER: Legrand A 

PROVIDER: S-EPMC5967426 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature