Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia

Abstract

We report the case of a young Emirati boy with HDR (Hypoparathyroidism, sensorineural Deafness, and Renal hypoplasia) syndrome due to the novel heterozygous deletion of two nucleotides (c.35_36delGC ) in exon 2 of the GATA3 gene. The patient developed hypocalcemia and hypomagnesemia at 3 weeks of age with high fractional excretion of magnesium, indicating renal magnesium loss. This is the first published report of hypomagnesemia in association with HDR syndrome.

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Correspondence to Amar Al-Shibli.

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Al-Shibli, A., Al Attrach, I. & Willems, P.J. Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia. Pediatr Nephrol 26, 1167–1170 (2011). https://doi.org/10.1007/s00467-011-1835-8

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Keywords

  • HDR syndrome
  • Hypoparathyroidism
  • Deafness
  • Renal dysplasia
  • Hypomagnesemia
  • GATA3