{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T14:10:07Z","timestamp":1775743807121,"version":"3.50.1"},"reference-count":15,"publisher":"Scientific Scholar","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023]]},"abstract":"<jats:p>A 39-year-old male was incidentally detected to have hypertension and chronic kidney disease (CKD) with left solitary functioning kidney in 2017. He has bilateral sensorineural hearing loss since adolescence. He was initially suspected to have adynamic bone disease in view of low parathyroid hormone levels and was started on teriparatide injections and calcium supplements. Despite all these measures, he had persistent hypocalcemia and low parathyroid hormone levels. Hence, Hypoparathyroidism, Deafness, and Renal dysplasia (HDR) syndrome was suspected, and the patient was evaluated for the same. Genetic analysis revealed the presence of a <jats:italic toggle=\"yes\">de novo<\/jats:italic> and a novel frameshift mutation in GATA-binding protein 3 (<jats:italic toggle=\"yes\">GATA3<\/jats:italic>) gene on chromosome 10p. To the best of our knowledge, this is the first case report of HDR syndrome being diagnosed by genetic analysis in India.<\/jats:p>","DOI":"10.4103\/ijn.ijn_250_21","type":"journal-article","created":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T19:00:40Z","timestamp":1696618840000},"page":"377-380","source":"Crossref","is-referenced-by-count":4,"title":["A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome"],"prefix":"10.25259","volume":"33","author":[{"given":"Pooja Prakash","family":"Prabhu","sequence":"first","affiliation":[{"name":"Department of Nephrology, Manipal Hospitals, Bangalore, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sudarshan","family":"Ballal","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Manipal Hospitals, Bangalore, 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