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The patient was diagnosed with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome. DNA sequence analysis of the GATA3 gene showed a novel de novo mutation, c. 529dupC (p. Arg177profs*126), in exon 2, resulting in a frameshift mutation with a premature stop codon after a new 126 amino acid sequence. We provide further evidence that HDR syndrome is caused by haploinsufficiency of GATA3.<\/jats:p>","DOI":"10.1177\/0300060515591065","type":"journal-article","created":{"date-parts":[[2015,8,12]],"date-time":"2015-08-12T22:00:15Z","timestamp":1439416815000},"page":"718-724","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":11,"title":["Identification of a novel\n                    <i>de novo GATA3<\/i>\n                    mutation in a patient with HDR syndrome"],"prefix":"10.1177","volume":"43","author":[{"given":"Liu","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Endocrinology, First Affiliated Hospital of Third Military Medical University, Chongqing, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bing","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, First Affiliated Hospital of Third Military Medical University, 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