{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T21:09:50Z","timestamp":1774645790225,"version":"3.50.1"},"reference-count":6,"publisher":"FapUNIFESP (SciELO)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Bras Endocrinol Metab"],"published-print":{"date-parts":[[2011,2]]},"abstract":"<jats:p>A loss of calcium-sensing receptor (CASR) function due to inactivating mutations can cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe hyperparathyroidism (NSHPT). NSHPT represents the most severe expression of FHH and courses as a life-threatening condition. The aim of this study was to identify and characterize a CASR mutation in a female infant brought to the health service due to dehydration, apathy, lack of breast feeding and severe hypercalcemia. Molecular analysis was performed on genomic DNA of the index case and her parents. A novel homozygous mutation (p.E519X) in CASR was identified in the proband; both mother and father had the same mutation in heterozygous state, confirming their FHH condition. The mutation results in a truncated and inactive protein due to the lack of transmembrane and intracellular domains. The identification of this novel CASR gene mutation established the basis of hypercalcemia in this family and allowed a genetic counseling.<\/jats:p>","DOI":"10.1590\/s0004-27302011000100009","type":"journal-article","created":{"date-parts":[[2011,4,1]],"date-time":"2011-04-01T10:52:21Z","timestamp":1301655141000},"page":"67-71","source":"Crossref","is-referenced-by-count":11,"title":["New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT)"],"prefix":"10.1590","volume":"55","author":[{"given":"Luiza Souza","family":"Rodrigues","sequence":"first","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Carolina Arias","family":"C\u00e1u","sequence":"additional","affiliation":[{"name":"Hospital de Ni\u00f1os Pedro de Elizalde,  Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luciane Zgoda","family":"Bussmann","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Bastida","sequence":"additional","affiliation":[{"name":"Hospital de Ni\u00f1os Pedro de Elizalde,  Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oscar H.","family":"Brunetto","sequence":"additional","affiliation":[{"name":"Hospital de Ni\u00f1os Pedro de Elizalde,  Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro Henrique Silveira","family":"Corr\u00eaa","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Regina Matsunaga","family":"Martin","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"issue":"3","key":"ref1","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.ceca.2003.10.010","article-title":"Diseases associated with the extracellular calcium-sensing receptor","volume":"35","author":"Thakker RV","year":"2004","journal-title":"Cell Calcium","ISSN":"https:\/\/id.crossref.org\/issn\/0143-4160","issn-type":"print"},{"issue":"4","key":"ref2","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1590\/S0004-27302006000400008","article-title":"The calcium-sensing receptor and related diseases","volume":"50","author":"D'Souza-Li L","year":"2006","journal-title":"Arq Bras Endocrinol Metabol","ISSN":"https:\/\/id.crossref.org\/issn\/0004-2730","issn-type":"print"},{"issue":"10","key":"ref3","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1007\/s00431-004-1491-0","article-title":"Neonatal severe hyperparathyroidism: genotype\/phenotype correlation and the use of pamidronate as rescue therapy","volume":"163","author":"Waller S","year":"2004","journal-title":"Eur J Pediatr","ISSN":"https:\/\/id.crossref.org\/issn\/0340-6199","issn-type":"print"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1258\/0004563042466802","article-title":"Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review","volume":"41","author":"Gunn IR","year":"2004","journal-title":"Ann Clin Biochem","ISSN":"https:\/\/id.crossref.org\/issn\/0004-5632","issn-type":"print"},{"issue":"7","key":"ref5","doi-asserted-by":"crossref","first-page":"2616","DOI":"10.1210\/jc.2007-0123","article-title":"Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status","volume":"92","author":"Zajickova K","year":"2007","journal-title":"J Clin Endocrinol Metab","ISSN":"https:\/\/id.crossref.org\/issn\/0021-972X","issn-type":"print"},{"issue":"2","key":"ref6","doi-asserted-by":"crossref","first-page":"F253","DOI":"10.1152\/ajprenal.00302.2004","article-title":"The calcium-sensing receptor: a key factor in the pathogenesis of secondary hyperparathyroidism","volume":"288","author":"Rodriguez M","year":"2005","journal-title":"Am J Physiol Renal Physiol"}],"container-title":["Arquivos Brasileiros de Endocrinologia &amp; 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