X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation.

doi:10.1016/j.gim.2024.101217

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Article

X-linked transient antenatal Bartter syndrome related to MAGED2 gene: Enriching the phenotypic description and pathophysiologic investigation.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2025

Buffet Alexandre, Filser Mathilde, Bruel Alexandra, Dard Rodolphe, Quibel Thibaud, Dubucs Charlotte, Kwon Theresa, Le Tanno Pauline, Thevenon Julien, Ziegler Alban, Allard Lise, Guigonis Vincent, Roux Jean-Jacques, Heidet Laurence, Rougeulle Claire, Boyer Olivia, Vargas-Poussou Rosa, Hureaux Marguerite

Abstract excerpt

PURPOSE: Transient Bartter syndrome related to pathogenic variants of MAGED2 is the most recently described antenatal Bartter syndrome. Despite its transient nature, it is the most severe form of Bartter syndrome in the perinatal period. Our aim was to describe 14 new cases and to try to explain the incomplete penetrance in women. METHODS: We report on 14 new cases, including 3 females, and review the 40 cases...

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Topics

Humans
Female
Bartter Syndrome
DNA Methylation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Phenotype

Male

Adult

Neoplasm Proteins

Child, Preschool

Promoter Regions, Genetic

Infant

CpG Islands

Source

Open in PubMed

Identifiers

PMID: 39036894
DOI: 10.1016/j.gim.2024.101217

Genes

MAGED2

Provenance

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