{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:54:16Z","timestamp":1787014456499,"version":"build-2736575974"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,2,15]],"date-time":"2006-02-15T00:00:00Z","timestamp":1139961600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2006,3]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    <jats:bold>Objective\u2002<\/jats:bold>\n                    To investigate two patients with the hyperparathyroidism\u2010jaw tumour (HPT\u2010JT) syndrome and three patients with familial isolated hyperparathyroidism (FIHP), together with 31 parathyroid tumours (2 HPT\u2010JT, 2 FIHP and 27 sporadic) for\n                    <jats:italic>HRPT2<\/jats:italic>\n                    mutations. The HPT\u2010JT syndrome and FIHP are autosomal dominant disorders that may be caused by abnormalities of the\n                    <jats:italic>HRPT2<\/jats:italic>\n                    gene, located on chromosome 1q31.2.\n                    <jats:italic>HRPT2<\/jats:italic>\n                    encodes a 531 amino acid protein, parafibromin, which interacts with human homologues of the yeast Paf1 complex.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Design\u2002<\/jats:bold>\n                    Leukocyte and tumor DNA was used with\n                    <jats:italic>HRPT2<\/jats:italic>\n                    \u2010specific primers for polymerase chain reaction amplification of the 17 exons and their splice junctions, and the DNA sequences of the polymerase chain reaction products determined.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results\u2002<\/jats:bold>\n                    Three heterozygous germline\n                    <jats:italic>HRPT2<\/jats:italic>\n                    mutations, two in HPT\u2010JT and one in FIHP patients, were identified. These consisted of one 1\u2010bp duplication (745dup1bp), 1 nonsense (Arg234Stop) and 1 missense (Asp379Asn) mutation. One parathyroid tumour from an FIHP patient was demonstrated to harbour a germline deletion of 1 bp together with a somatic missense (Leu95Pro) mutation, consistent with a \u2018two\u2010hit\u2019 model for hereditary cancer. The 27 sporadic benign parathyroid tumours did not harbour any\n                    <jats:italic>HRPT2<\/jats:italic>\n                    somatic mutations. Six\n                    <jats:italic>HRPT2<\/jats:italic>\n                    polymorphisms with allele frequencies ranging from 2% to 15% were detected.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusions\u2002<\/jats:bold>\n                    Our results have identified three novel\n                    <jats:italic>HRPT2<\/jats:italic>\n                    mutations (two germline and one somatic). The Asp379Asn mutation is likely to disrupt interaction with the human homologue of the yeast Paf1 complex, and the demonstration of combined germline and somatic\n                    <jats:italic>HRPT2<\/jats:italic>\n                    mutations in a parathyroid tumour provide further evidence for the tumour suppressor role of the\n                    <jats:italic>HRPT2<\/jats:italic>\n                    gene.\n                  <\/jats:p>","DOI":"10.1111\/j.1365-2265.2006.02460.x","type":"journal-article","created":{"date-parts":[[2006,2,15]],"date-time":"2006-02-15T05:05:02Z","timestamp":1139979902000},"page":"299-306","source":"Crossref","is-referenced-by-count":98,"title":["Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours"],"prefix":"10.1111","volume":"64","author":[{"given":"K. J.","family":"Bradley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. 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