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GATA3 Haplo-insufficiency Causes Human HDR Syndrome

 
  July, 28 2000 5:08
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The DiGeorge-like phenotype that consists of hypoparathyroidism, heart defects, immune deficiency, deafness and renal malformations is the result of terminal deletions of chromosome 10p.

Deletion-mapping studies by Esch, Groenen, and colleagues (see Nature Vol. 406, Issue 6794, July 27, 2000), in two patients with the renal anomaly (HDR) syndrome, have helped define a critical 200-kb region containing the GATA3 gene, which is part of the family of zinc-finger transcription factors involved in vertebrate embryonic development. Their results show that GATA3 is an important factor in the development of the parathyroids, inner ear, and kidneys, and advocate further research into GATA3, and related genes involved in the development of these organs.


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