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A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I

Daniel Halperin1, Vadim Dolgin1, Michael Geylis2

  • 1The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Annals of Human Genetics
|April 13, 2019
PubMed

Insights

A novel mutation in the SLC12A1 gene causes antenatal Bartter syndrome (ABS) type I in Israeli Bedouins, presenting with severe failure to thrive, polyuria, and unusual hypernatremia. This genetic discovery expands understanding of rare kidney disorders.

Area of Science:

  • Genetics and Molecular Biology
  • Pediatrics and Neonatology
  • Nephrology

Background:

  • Antenatal Bartter syndrome (ABS) is a rare autosomal recessive disorder affecting kidney salt reabsorption.
  • Previous descriptions of ABS type I have not included the Israeli Bedouin population.
  • Clinical presentation can include polyuria, hypokalemic metabolic alkalosis, and failure to thrive.

Purpose of the Study:

  • To identify the genetic cause of a severe form of antenatal Bartter syndrome in an Israeli Bedouin kindred.
  • To characterize novel clinical features associated with this specific genetic mutation.
  • To report the first instance of ABS type I in the Israeli Bedouin population.

Main Methods:

  • Genome-wide linkage analysis was performed to identify disease-associated loci.
  • Whole-exome sequencing was utilized to pinpoint the causative genetic mutation.
  • Clinical data from affected individuals were systematically collected and analyzed.

Main Results:

  • A novel homozygous missense mutation in the SLC12A1 gene (encoding NKCC2) was identified on chromosome 15q21.1.
  • This mutation segregated with the disease phenotype in the affected kindred.
  • Patients exhibited severe ABS type I with unusual features including intermittent hypernatremia (nephrogenic diabetes insipidus) and micrognathia with airway abnormalities.

Conclusions:

  • A novel SLC12A1 mutation causes a severe, previously undescribed form of antenatal Bartter syndrome type I in Israeli Bedouins.
  • The findings highlight the genetic heterogeneity of Bartter syndrome and expand its clinical spectrum.
  • This study underscores the importance of genetic diagnostics in rare pediatric kidney diseases and specific ethnic populations.

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