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GATA3, Hypoparathryoidism, Deafness, and Renal Disease 

GATA3, Hypoparathryoidism, Deafness, and Renal Disease
Chapter:
GATA3, Hypoparathryoidism, Deafness, and Renal Disease
Author(s):

R. V. Thakker

DOI:
10.1093/med/9780199934522.003.0131
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date: 04 March 2021

The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by heterozygous, germline mutations of the transcription factor GATA3, which consists of 444 amino acids and contains two zinc-finger motifs. The role of GATA3 in the embryonic development of the parathyroids, cochlea and kidneys has been elucidated by studies in mice deleted for Gata3 alleles. Thus, Gata3-/- and Gata3+/- embryos lack or have smaller parathyroid-thymus primordial, respectively, and parathyroids of adult Gata3+/- mice do not enlarge or have an increased proliferation rate in response to hypocalcaemia. Adult Gata3+/- mice develop deafness due to degeneration of the outer hair cells in the cochlea. Renal abnormalities, occurring in Gata3-/- embryos that have been pharmacologically rescued with catecholamine intermediates, involve a transcriptional cascade comprising Pax2, Pax8 and Ret.

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