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Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene

Filiz Aktürk Acar1, Güneş Işik2, Mehmet Mutlu1

  • 1Division of Neonatology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

Indian Journal of Nephrology
|October 2, 2019
PubMed

Insights

Antenatal Bartter syndrome, a genetic kidney disorder, is caused by mutations in the SLC12A1 gene. A novel mutation was identified in a premature infant with this condition.

Area of Science:

  • Genetics
  • Nephrology
  • Molecular Biology

Background:

  • Antenatal Bartter syndrome (BS) is an inherited renal tubular disorder.
  • It results from mutations in the solute carrier family 12 member 1 (SLC12A1) gene.
  • The condition presents with electrolyte imbalances and increased urinary losses.

Observation:

  • A premature newborn with very low birth weight was diagnosed with antenatal BS.
  • The infant exhibited characteristic symptoms of the syndrome.

Findings:

  • A novel homozygous mutation, c.596G>A (p.R199H), in the SLC12A1 gene was identified as the cause.
  • This mutation occurred in the affected premature infant.

Implications:

  • This finding expands the known spectrum of SLC12A1 mutations causing antenatal BS.
  • Understanding novel mutations aids in genetic diagnosis and counseling for families.
  • Further research into genotype-phenotype correlations is warranted.

Keywords:
Antenatal Bartter syndromeSLC12A1 genemutation

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