title: Transcription factor GATA3 and the human HDR syndrome.
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.
authors.affiliation: Centre for Human Genetics, University of Leuven, Belgium.
authors.forename: H
authors.initials: H
authors.lastname: Van Esch
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
mesh_terms: D000818:Animals; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D004268:DNA-Binding Proteins / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D005260:Female; D050990:GATA3 Transcription Factor; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D051379:Mice; D010375:Pedigree; D013577:Syndrome; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D016335:Zinc Fingers
chemical_list: D004268:DNA-Binding Proteins; D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human; C494748:Gata3 protein, mouse; D015534:Trans-Activators; D014157:Transcription Factors