ArticleJournal of molecular medicine (Berlin, Germany)2011
Novel dominant-negative mutant of GATA3 in HDR syndrome.
Article in Journal of molecular medicine (Berlin, Germany), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 20 citations in OpenAlex.
- A novel frameshift variant of GATA3 (p.Ala17ProfsTer178) responsible for HDR syndrome in a Japanese family.Endocrine journal · 2024Review
- A novelMolecular genetics and metabolism reports · 2024Article
- A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant inClinical case reports · 2020Article
- Juvenile idiopathic arthritis associated with a mutation in GATA3.Arthritis research & therapy · 2019Article
- A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.Journal of clinical research in pediatric endocrinology · 2015Article
- Transactivation of human osteoprotegerin promoter by GATA-3.Scientific reports · 2015Article
- Auditory and vestibular phenotypes associated with GATA3 mutation.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2014Article
- Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding.European journal of pediatrics · 2013Article
- A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene.Genetics and molecular biologyArticle
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
HDR syndrome is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal anomaly caused by mutation of the GATA3 gene located at chromosome 10p15. We report the case of a neonate with HDR syndrome and a novel GATA3 mutation. We performed genetic and functional analysis of GATA3 in this patient and identified a novel heterozygous 1516G> C missense mutation in exon 5, resulting in a cysteine-to-serine substitution at codon 321 (Cys321Ser). Mutated and wild-type GATA3 proteins were expressed at a similar level in vitro, indicating that the mutated GATA3 protein was stable. Luciferase assay revealed that the Cys321Ser-mutated GATA3 lacked transactivation activity due to loss of DNA-binding activity as confirmed by gel shift assay. Moreover, mutated GATA3 exerted a dominant-negative effect over the transactivation activity of wild-type GATA3. These findings indicate that not only haploinsufficiency of GATA3 but also the dominant-negative effect of Cys321Ser-mutated GATA3 might have been responsible for the HDR syndrome phenotype of our patient.
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