{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T23:54:50Z","timestamp":1785887690141,"version":"3.56.0"},"reference-count":14,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,5,18]]},"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:p>Autosomal dominant hypocalcaemia is a rare aetiology of hypocalcaemia, caused by gain-of-function mutations of the calcium-sensing receptor (<jats:italic>CASR<\/jats:italic>) gene. We present two cases of two asymptomatic women (50-year-old\u2014case 1 and 25-year-old\u2014case 2), referred to our endocrinology department for investigation of hypocalcaemia, hyperphosphatemia and inappropriately low parathormone. Both patients had relatives with the same laboratorial findings. At diagnosis, both patients presented basal ganglia calcifications. Genetic analysis was performed, identifying two novel heterozygous <jats:italic>CASR<\/jats:italic> variants: c.2269G&gt;A (p.Glu757Lys) and c.2086C&gt;G (p.Leu696Val), respectively, for case 1 and case 2. Affected individuals started oral calcium and vitamin D analogues, aiming to a low\u2013normal calcium level. They remain under observation and are asymptomatic.<\/jats:p>","DOI":"10.1136\/bcr-2020-234391","type":"journal-article","created":{"date-parts":[[2020,6,8]],"date-time":"2020-06-08T06:55:25Z","timestamp":1591599325000},"page":"e234391","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Autosomal dominant hypocalcaemia: identification of two novel variants of <i>CASR<\/i> gene"],"prefix":"10.1136","volume":"13","author":[{"given":"V\u00e2nia","family":"Gomes","sequence":"first","affiliation":[{"name":"Endocrinology, Diabetes and Metabolism Department, Hospital de Santa Maria, Lisboa, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catarina","family":"Silvestre","sequence":"additional","affiliation":[{"name":"Endocrinology, Diabetes and Metabolism Department, Hospital de Santa Maria, Lisboa, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florbela","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Endocrinology, Diabetes and Metabolism Department, Hospital de Santa Maria, Lisboa, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Jo\u00e3o Guerreiro Martins","family":"Bugalho","sequence":"additional","affiliation":[{"name":"Endocrinology, Diabetes and Metabolism Department, Hospital de Santa Maria, Lisboa, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2020,6,7]]},"reference":[{"key":"2025082708192022000_13.6.e234391.1","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1159\/000491042","article-title":"Hypoparathyroidism","volume":"51","author":"Hakami","year":"2019","journal-title":"Front Horm 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hypocalcemia (hypoparathyroidism) types 1 and 2","volume":"7","author":"Roszko","year":"2016","journal-title":"Front Physiol"},{"key":"2025082708192022000_13.6.e234391.9","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.mce.2015.02.021","article-title":"Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia","volume":"407","author":"Baran","year":"2015","journal-title":"Mol Cell Endocrinol"},{"key":"2025082708192022000_13.6.e234391.10","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1016\/j.ymgme.2012.06.012","article-title":"CASR gene activating mutations in two families with autosomal dominant hypocalcemia","volume":"107","author":"Guarnieri","year":"2012","journal-title":"Mol Genet Metab"},{"key":"2025082708192022000_13.6.e234391.11","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2018.00200","article-title":"Identification and functional characterization of a novel mutation in the human calcium-sensing receptor that Co-Segregates with autosomal-dominant hypocalcemia","volume":"9","author":"Rasmussen","year":"2018","journal-title":"Front Endocrinol"},{"key":"2025082708192022000_13.6.e234391.12","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.4.1695"},{"key":"2025082708192022000_13.6.e234391.13","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-15-0628"},{"key":"2025082708192022000_13.6.e234391.14","doi-asserted-by":"crossref","first-page":"4083","DOI":"10.1111\/bph.14086","article-title":"Calcimimetic and calcilytic therapies for inherited disorders of the calcium-sensing receptor signalling pathway","volume":"175","author":"Hannan","year":"2018","journal-title":"Br J Pharmacol"}],"container-title":["BMJ Case 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