{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:17:02Z","timestamp":1784557022469,"version":"3.55.0"},"reference-count":20,"publisher":"Bioscientifica","license":[{"start":{"date-parts":[[2018,12,5]],"date-time":"2018-12-05T00:00:00Z","timestamp":1543968000000},"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":[[2018,12,5]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Familial hypocalciuric hypercalcemia type I is an autosomal dominant disorder caused by heterozygous loss-of-function mutations in the\n                    <jats:italic>CASR<\/jats:italic>\n                    gene and is characterized by moderately elevated serum calcium concentrations, low urinary calcium excretion and inappropriately normal or mildly elevated parathyroid hormone (PTH) concentrations. We performed a clinical and genetic characterization of one patient suspected of familial hypocalciuric hypercalcemia type I. Patient presented persistent hypercalcemia with normal PTH and 25-hydroxyvitamin D levels. The\n                    <jats:italic>CASR<\/jats:italic>\n                    was screened for mutations by PCR followed by direct Sanger sequencing and, in order to detect large deletions or duplications, multiplex ligation-dependent probe amplification (MLPA) was used. One large deletion of 973 nucleotides in heterozygous state (c.1733-255_2450del) was detected. This is the first large deletion detected by the MLPA technique in the\n                    <jats:italic>CASR<\/jats:italic>\n                    gene.\n                  <\/jats:p>\n                  <jats:sec>\n                    <jats:title>Learning points:<\/jats:title>\n                    <jats:list list-type=\"bullet\">\n                      <jats:list-item>\n                        <jats:p>Molecular studies are important to confirm the differential diagnosis of FHH from primary hyperparathyroidism.<\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>\n                          Large deletions or duplications in the\n                          <jats:italic>CASR<\/jats:italic>\n                          gene can be detected by the MLPA technique.\n                        <\/jats:p>\n                      <\/jats:list-item>\n                      <jats:list-item>\n                        <jats:p>Understanding the functional impact of the mutations is critical for leading pharmacological research and could facilitate the therapy of patients.<\/jats:p>\n                      <\/jats:list-item>\n                    <\/jats:list>\n                  <\/jats:sec>","DOI":"10.1530\/edm-18-0114","type":"journal-article","created":{"date-parts":[[2018,12,7]],"date-time":"2018-12-07T09:57:09Z","timestamp":1544176629000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-2","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia"],"prefix":"10.1530","volume":"2018","author":[{"given":"Alejandro","family":"Garc\u00eda-Casta\u00f1o","sequence":"first","affiliation":[{"name":"1Biocruces Bizkaia Health Research InstituteCIBERDEM, CIBERER, Barakaldo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leire","family":"Madariaga","sequence":"additional","affiliation":[{"name":"1Biocruces Bizkaia Health Research InstituteCIBERDEM, CIBERER, Barakaldo, Spain"},{"name":"2Hospital Universitario CrucesUPV\/EHU, Barakaldo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharona","family":"Azriel","sequence":"additional","affiliation":[{"name":"3Hospital Infanta SofiaMadrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gustavo","family":"P\u00e9rez de Nanclares","sequence":"additional","affiliation":[{"name":"1Biocruces Bizkaia Health Research InstituteCIBERDEM, CIBERER, Barakaldo, Spain"},{"name":"2Hospital Universitario CrucesUPV\/EHU, Barakaldo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Idoia","family":"Mart\u00ednez de LaPiscina","sequence":"additional","affiliation":[{"name":"1Biocruces Bizkaia Health Research InstituteCIBERDEM, CIBERER, Barakaldo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Mart\u00ednez","sequence":"additional","affiliation":[{"name":"1Biocruces Bizkaia Health Research InstituteCIBERDEM, CIBERER, Barakaldo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00e9s","family":"Urrutia","sequence":"additional","affiliation":[{"name":"1Biocruces Bizkaia Health Research InstituteCIBERDEM, CIBERER, Barakaldo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"An\u00edbal","family":"Aguayo","sequence":"additional","affiliation":[{"name":"1Biocruces Bizkaia Health Research InstituteCIBERDEM, CIBERER, Barakaldo, Spain"},{"name":"2Hospital Universitario CrucesUPV\/EHU, Barakaldo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Gaztambide","sequence":"additional","affiliation":[{"name":"1Biocruces Bizkaia Health Research InstituteCIBERDEM, CIBERER, Barakaldo, Spain"},{"name":"2Hospital Universitario CrucesUPV\/EHU, Barakaldo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Casta\u00f1o","sequence":"additional","affiliation":[{"name":"1Biocruces Bizkaia Health Research InstituteCIBERDEM, CIBERER, Barakaldo, Spain"},{"name":"2Hospital Universitario CrucesUPV\/EHU, Barakaldo, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"ref131","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","year":"2015","journal-title":"Genetics in Medicine"},{"key":"ref171","first-page":"1695","article-title":"A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor\u2019s carboxylterminal cytoplasmic tail that causes 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