Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

doi:10.1093/hmg/ddl454

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Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

Human molecular genetics - 1 Feb 2007

Ali Asif, Christie Paul T, Grigorieva Irina V, Harding Brian, Van Esch Hilde, Ahmed S Faisal, Bitner-Glindzicz Maria, Blind Eberhard, Bloch Catherine, Christin Patricia, Clayton Peter, Gecz Jozef, Gilbert-Dussardier Brigitte, Guillen-Navarro Encarna, Hackett Anna, Halac Isil, Hendy Geoffrey N, Lalloo Fiona, Mache Christoph J, Mughal Zulf, Ong Albert C M, Rinat Choni, Shaw Nicholas, Smithson Sarah F, Tolmie John, Weill Jacques, Nesbit M Andrew, Thakker Rajesh V

Abstract excerpt

The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. We investigated 21 HDR probands and 14 patients with isolated hypoparathyroidism for GATA3 abnormalities. Thirteen different heterozygous germline mutations were identified in patients with HDR. These consisted of three nonsense mutations, six...

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PMID: 17210674
DOI: 10.1093/hmg/ddl454

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GATA3

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