Transcription Factor GATA3 and the Human HDR Syndrome

Overview

Journal Cell Mol Life Sci

Publisher Springer

Specialty Biology

Date 2001 Oct 2

PMID 11577985

Citations 27

Authors

H Van Esch

K Devriendt

Affiliations

Soon will be listed here.

Abstract

Recently, a member of the GATA-binding family of transcription factors was shown to be involved in the human hypoparathyroidism, sensorineural deafness and renal anomalies (HDR) syndrome. Deletion-mapping studies and subsequent mutation analysis revealed that haploinsufficiency for GATA3 is the underlying mechanism of the HDR syndrome. Here we discuss the clinical characteristics of the HDR syndrome and present an overview of the role of GATA3 and related GATA-binding transcription factors during vertebrate embryonic development and their involvement in human disease.

Citing Articles

Diagnosing Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome and a Novel Variant.

Valenciaga A, Brock P, ODonnell B, Ing S JCEM Case Rep. 2025; 3(1):luae246.

PMID: 39822657 PMC: 11735463. DOI: 10.1210/jcemcr/luae246.

Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).

Chen X, Zou C Mol Genet Genomic Med. 2024; 12(4):e2433.

PMID: 38591167 PMC: 11002637. DOI: 10.1002/mgg3.2433.

A novel frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome.

Huang B, Li S, Chai Y, Fan Y, Li X, Liu Y Mol Genet Metab Rep. 2024; 38:101063.

PMID: 38469092 PMC: 10926224. DOI: 10.1016/j.ymgmr.2024.101063.

The multifaceted links between hearing loss and chronic kidney disease.

Greenberg D, Rosenblum N, Tonelli M Nat Rev Nephrol. 2024; 20(5):295-312.

PMID: 38287134 DOI: 10.1038/s41581-024-00808-2.

Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Syndrome Presenting With Febrile Seizures and Hypocalcemia.

Gandolfi A, Ratnasamy K, Minutti C JCEM Case Rep. 2023; 1(1):luac025.

PMID: 37908274 PMC: 10578366. DOI: 10.1210/jcemcr/luac025.