{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:16Z","timestamp":1784557036626,"version":"3.55.0"},"reference-count":14,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T00:00:00Z","timestamp":1538352000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/deed.en_GB"}],"content-domain":{"domain":["edm.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,10,1]]},"abstract":"Summary<\/jats:title>\n \n Autosomal dominant hypocalcaemia type 1 (ADH1) is a rare familial disorder characterised by low serum calcium and low or inappropriately normal serum PTH. It is caused by activating\n CASR<\/jats:italic>\n mutations, which produces a left-shift in the set point for extracellular calcium. We describe an Australian family with a novel heterozygous missense mutation in\n CASR<\/jats:italic>\n causing ADH1. Mild neuromuscular symptoms (paraesthesia, carpopedal spasm) were present in most affected individuals and required treatment with calcium and calcitriol. Basal ganglia calcification was present in three out of four affected family members. This case highlights the importance of correctly identifying genetic causes of hypocalcaemia to allow for proper management and screening of family members.\n <\/jats:p>\n \n Learning points:<\/jats:title>\n \n \n \n ADH1 is a rare cause of hypoparathyroidism due to activating\n CASR<\/jats:italic>\n mutations and is the mirror image of familial hypocalciuric hypercalcaemia.\n <\/jats:p>\n <\/jats:list-item>\n \n In patients with ADH1, symptoms of hypocalcaemia may be mild or absent. Basal ganglia calcification may be present in over a third of patients.<\/jats:p>\n <\/jats:list-item>\n \n \n CASR<\/jats:italic>\n mutation analysis is required for diagnostic confirmation and to facilitate proper management, screening and genetic counselling of affected family members.\n <\/jats:p>\n <\/jats:list-item>\n \n Treatment with calcium and activated vitamin D analogues should be reserved for symptomatic individuals due to the risk of exacerbating hypercalciuria and its associated complications.<\/jats:p>\n <\/jats:list-item>\n <\/jats:list>\n <\/jats:sec>","DOI":"10.1530\/edm-18-0107","type":"journal-article","created":{"date-parts":[[2018,10,1]],"date-time":"2018-10-01T07:50:58Z","timestamp":1538380258000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":0,"title":["A novel CASR mutation (p.Glu757Lys) causing autosomal dominant hypocalcaemia type 1"],"prefix":"10.1530","volume":"2018","author":[{"given":"Benjamin","family":"Kwan","sequence":"first","affiliation":[{"name":"1University of Sydney, Sydney, New South Wales, Australia"},{"name":"2Department of Endocrinology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Champion","sequence":"additional","affiliation":[{"name":"1University of Sydney, Sydney, New South Wales, Australia"},{"name":"3Department of Clinical Medicine, Macquarie University, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven","family":"Boyages","sequence":"additional","affiliation":[{"name":"1University of Sydney, Sydney, New South Wales, Australia"},{"name":"4Department of Endocrinology, Westmead Hospital, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Craig F","family":"Munns","sequence":"additional","affiliation":[{"name":"1University of Sydney, Sydney, New South Wales, Australia"},{"name":"5The Children\u2019s Hospital at Westmead, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roderick","family":"Clifton-Bligh","sequence":"additional","affiliation":[{"name":"1University of Sydney, Sydney, New South Wales, Australia"},{"name":"6Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Luxford","sequence":"additional","affiliation":[{"name":"1University of Sydney, Sydney, New South Wales, Australia"},{"name":"6Cancer Genetics Laboratory, Kolling Institute, Royal North Shore Hospital, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bronwyn","family":"Crawford","sequence":"additional","affiliation":[{"name":"1University of Sydney, Sydney, New South Wales, Australia"},{"name":"2Department of Endocrinology, Concord Repatriation General Hospital, Sydney, New South Wales, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref61","doi-asserted-by":"crossref","first-page":"760","DOI":"10.1111\/j.1365-2265.2011.04142.x","article-title":"Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - 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