Prenatal diagnosis of MAGED2 gene mutation causing transient antenatal Bartter syndrome

Eur J Med Genet. 2021 Oct;64(10):104308. doi: 10.1016/j.ejmg.2021.104308. Epub 2021 Aug 13.

Abstract

Transient antenatal Bartter syndrome due to melanoma-associated antigen D2 gene mutation is a newly reported type of Bartter syndrome. Its characteristics include an X-linked inheritance pattern, early-onset hydramnios, and spontaneous disappearance of symptoms after childbirth. To date, there have been no reports of prenatally diagnosed cases. We herein present the case of a preterm male born to a mother with early-onset hydramnios and a family history of X-linked idiopathic hydramnios. We suspected melanoma-associated antigen D2 gene mutation and performed direct sequencing. As a result, we were able to prenatally establish a diagnosis of transient Bartter syndrome due to a melanoma-associated antigen D2 gene mutation.

Keywords: Bartter syndrome; Newborn infant; Polyhydramnios; Prenatal diagnosis; X-linked genes.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adult
  • Antigens, Neoplasm / genetics*
  • Bartter Syndrome / blood
  • Bartter Syndrome / diagnosis
  • Bartter Syndrome / drug therapy
  • Bartter Syndrome / genetics*
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Male
  • Maternal Serum Screening Tests*
  • Mutation
  • Polyhydramnios / diagnosis*
  • Pregnancy

Substances

  • Adaptor Proteins, Signal Transducing
  • Antigens, Neoplasm
  • MAGED2 protein, human