{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T14:10:05Z","timestamp":1775743805625,"version":"3.50.1"},"reference-count":14,"publisher":"The Endocrine Society","issue":"1","license":[{"start":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T00:00:00Z","timestamp":1736985600000},"content-version":"vor","delay-in-days":35,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,12,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Hypoparathyroidism (hypoPTH), sensorineural deafness, and renal dysplasia (HDR) syndrome is a rare autosomal dominant condition with approximately 200 cases published. HDR syndrome is caused by variants of GATA binding protein 3 gene (GATA3), which encodes a transcription factor, with multiple types of GATA3 variants reported. We present the case of a 76-year-old woman who was diagnosed with hypoPTH when she was aged 40 years and transferred care to our institution. Further history elucidated presence of deafness at age 1 year and chronic kidney disease with a left atrophic kidney diagnosed in her 60\u2005seconds. Genetic testing identified a novel GATA3 missense variant of unknown significance (c.791G &amp;gt; A, p.Cys264Tyr). There was no family history of hypoPTH, deafness, or renal disease, which might indicate incomplete penetrance or de novo mutation. Advanced modeling of protein sequence and biophysical properties predicts abnormal protein function, suggesting possible pathogenicity. In addition, a likely pathogenic variant in the same amino acid was previously described in a patient with HDR, supporting the in silico prediction of pathogenicity in our patient's variant. Syndromic hypoPTH should be considered in patients even if presenting later in life with presumed chronic isolated conditions. Genetic testing can guide further disease screening and family testing when appropriate.<\/jats:p>","DOI":"10.1210\/jcemcr\/luae246","type":"journal-article","created":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T06:01:43Z","timestamp":1737007303000},"source":"Crossref","is-referenced-by-count":3,"title":["Diagnosing Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome and a Novel <i>GATA3<\/i> Variant"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0600-3918","authenticated-orcid":false,"given":"Anisley","family":"Valenciaga","sequence":"first","affiliation":[{"name":"Division of Endocrinology, Diabetes and Metabolism, The Ohio State University Wexner Medical Center and Arthur G. James Comprehensive Cancer Center , Columbus, OH 43210 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1549-5363","authenticated-orcid":false,"given":"Pamela","family":"Brock","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, The Ohio State University Wexner Medical Center and Arthur G. James Comprehensive Cancer Center , Columbus, OH 43210 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8088-0754","authenticated-orcid":false,"given":"Benjamin","family":"O\u2019Donnell","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes and Metabolism, The Ohio State University Wexner Medical Center and Arthur G. James Comprehensive Cancer Center , Columbus, OH 43210 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4343-6723","authenticated-orcid":false,"given":"Steven W","family":"Ing","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes and Metabolism, The Ohio State University Wexner Medical Center and Arthur G. James Comprehensive Cancer Center , Columbus, OH 43210 ,","place":["USA"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2025,1,16]]},"reference":[{"issue":"1","key":"2025011704223902200_luae246-B1","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/S0022-3476(77)80445-9","article-title":"Familial Nephrosis, nerve deafness, and hypoparathyroidism","volume":"91","author":"Barakat","year":"1977","journal-title":"J Pediatr"},{"issue":"15","key":"2025011704223902200_luae246-B2","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1056\/NEJM199210083271506","article-title":"Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia","volume":"327","author":"Bilous","year":"1992","journal-title":"N Engl J Med"},{"issue":"4","key":"2025011704223902200_luae246-B3","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1002\/(SICI)1096-8628(19971231)73:4<416::AID-AJMG9>3.0.CO;2-L","article-title":"HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)","volume":"73","author":"Hasegawa","year":"1997","journal-title":"Am J Med Genet"},{"issue":"6","key":"2025011704223902200_luae246-B4","doi-asserted-by":"crossref","first-page":"1341","DOI":"10.1002\/ajmg.a.38693","article-title":"Barakat syndrome revisited","volume":"176","author":"Barakat","year":"2018","journal-title":"Am J Med Genet A"},{"issue":"5","key":"2025011704223902200_luae246-B5","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1111\/cge.14583","article-title":"HDR syndrome: large cohort and systematic review","volume":"106","author":"Le Gouard","year":"2024","journal-title":"Clin Genet"},{"issue":"6794","key":"2025011704223902200_luae246-B6","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1038\/35019088","article-title":"GATA3 haplo-insufficiency causes human HDR syndrome","volume":"406","author":"Van Esch","year":"2000","journal-title":"Nature"},{"issue":"9","key":"2025011704223902200_luae246-B7","doi-asserted-by":"crossref","first-page":"1296","DOI":"10.1007\/PL00000940","article-title":"Transcription factor GATA3 and the human HDR syndrome","volume":"58","author":"Van Esch","year":"2001","journal-title":"Cell Mol Life Sci"},{"issue":"21","key":"2025011704223902200_luae246-B8","doi-asserted-by":"crossref","first-page":"22624","DOI":"10.1074\/jbc.M401797200","article-title":"Characterization of mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome","volume":"279","author":"Nesbit","year":"2004","journal-title":"J Biol Chem"},{"key":"2025011704223902200_luae246-B9","author":"Genome Aggregation Database"},{"key":"2025011704223902200_luae246-B10","author":"The Human Gene Mutation Database"},{"key":"2025011704223902200_luae246-B11","author":"Medicine NLo"},{"key":"2025011704223902200_luae246-B12","author":"Engine THGVS"},{"issue":"1","key":"2025011704223902200_luae246-B13","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1038\/s41436-020-00963-4","article-title":"Clinical impact of genomic testing in patients with suspected monogenic kidney disease","volume":"23","author":"Jayasinghe","year":"2021","journal-title":"Genet Med"},{"issue":"4","key":"2025011704223902200_luae246-B14","doi-asserted-by":"crossref","DOI":"10.1530\/EDM-23-0018","article-title":"Barakat syndrome diagnosed decades after initial presentation","volume":"2023","author":"Spennato","year":"2023","journal-title":"Endocrinology Diabetes and Metabolism Case Reports"}],"container-title":["JCEM Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/3\/1\/luae246\/61448410\/luae246.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jcemcr\/article-pdf\/3\/1\/luae246\/61448410\/luae246.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T04:22:54Z","timestamp":1737087774000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcemcr\/article\/doi\/10.1210\/jcemcr\/luae246\/7954822"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,12]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,12,12]]}},"URL":"https:\/\/doi.org\/10.1210\/jcemcr\/luae246","relation":{},"ISSN":["2755-1520"],"issn-type":[{"value":"2755-1520","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,1]]},"published":{"date-parts":[[2024,12,12]]},"article-number":"luae246"}}