{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T09:46:09Z","timestamp":1771235169702,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,3,10]],"date-time":"2020-03-10T00:00:00Z","timestamp":1583798400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["18411965500"],"award-info":[{"award-number":["18411965500"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Barakat syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal anomalies and is caused by mutations in <jats:italic>GATA3<\/jats:italic> gene. <jats:italic>SLC34A3<\/jats:italic> is the cause gene of hypophosphatemic rickets with hypercalciuria, and heterozygous carriers may have milder clinical symptoms. The aim of this study was to identify the underlying genetic cause of a patient who initially presented with renal failure, hypercalciuria, kidney stone, and bilateral sensorineural deafness.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A 6\u2010year\u2010old boy with complex clinical presentations was investigated. Comprehensive medical evaluations were performed including auditory function tests, endocrine function tests, metabolic studies, and imaging examinations. Molecular diagnoses were analyzed by trio whole\u2010exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>One novel de novo deleterious variant (c. 324del) of the <jats:italic>GATA3<\/jats:italic> gene was identified in the patient. The patient can be diagnosed with Barakat syndrome. In addition, one novel variant (c. 589A&gt;G) of the <jats:italic>SLC34A3<\/jats:italic> gene was detected, which was inherited from the father. This heterozygous variant can explain the hypercalciuria and kidney stone that occurred in both the patient and his father.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study provides a special case which is phenotype\u2010driven dual diagnoses, and the two novel variants can parsimoniously explain the complex clinical presentations of this patient.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1222","type":"journal-article","created":{"date-parts":[[2020,3,10]],"date-time":"2020-03-10T20:14:21Z","timestamp":1583871261000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Novel heterozygous <i>GATA3<\/i> and <i>SLC34A3<\/i> variants in a 6\u2010year\u2010old boy with Barakat syndrome and hypercalciuria"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8487-974X","authenticated-orcid":false,"given":"Sha","family":"Yu","sequence":"first","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery Children\u2019s Hospital of Fudan University Shanghai China"},{"name":"Center for Molecular Medicine Pediatrics Research Institute Children\u2019s Hospital of Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen\u2010xia","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery Children\u2019s Hospital of Fudan University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Lu","sequence":"additional","affiliation":[{"name":"Endocrinology and Inherited Metabolic Diseases Children\u2019s Hospital of Fudan University Shanghai 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