{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T04:58:02Z","timestamp":1789534682168,"version":"build-2803163510"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,5,11]],"date-time":"2006-05-11T00:00:00Z","timestamp":1147305600000},"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":[[2006,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Background\u2002<\/jats:bold> A subset of familial isolated primary hyperparathyroidism (FIHP) is a variant of hyperparathyroidism\u2013jaw tumour syndrome (HPT\u2010JT).<\/jats:p><jats:p><jats:bold>Aim\/patients and methods\u2002<\/jats:bold> We investigated the involvement of the <jats:italic>HRPT2<\/jats:italic>, <jats:italic>MEN1<\/jats:italic> and <jats:italic>CASR<\/jats:italic> genes in 11 provisional FIHP families and two HPT\u2010JT families.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> Germline mutations of <jats:italic>HRPT2<\/jats:italic> were found in two of the 11 FIHP families and one of the two HPT\u2010JT families. One FIHP family with parathyroid carcinoma and atypical adenomas and another FIHP family with cystic parathyroid adenoma had novel frameshift mutations of 518\u2013521del and 62\u201366del, respectively. In a patient with HPT\u2010JT, a <jats:italic>de\u00a0novo<\/jats:italic> germline mutation of 39delC was detected. Novel somatic <jats:italic>HRPT2<\/jats:italic> mutations of 70\u201373del and 95\u2013102del were found in two of five parathyroid tumours in a family with a 518\u2013521del mutation. Biallelic inactivation of <jats:italic>HRPT2<\/jats:italic> by a combination of germline and somatic mutation was confirmed in the parathyroid tumours. The finding that two families diagnosed with FIHP carried <jats:italic>HRPT2<\/jats:italic> mutations suggests that they have occult HPT\u2010JT. In the remaining 10 families, one family had a missense <jats:italic>MEN1<\/jats:italic> mutation. No mutations of <jats:italic>CASR<\/jats:italic> were detected.<\/jats:p><jats:p><jats:bold>Conclusion\u2002<\/jats:bold> Our results confirm the need to test for <jats:italic>HRPT2<\/jats:italic> in FIHP families, especially those with parathyroid carcinomas, atypical adenomas or adenomas with cystic change.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2006.02534.x","type":"journal-article","created":{"date-parts":[[2006,5,11]],"date-time":"2006-05-11T15:46:38Z","timestamp":1147362398000},"page":"9-16","source":"Crossref","is-referenced-by-count":72,"title":["Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism\u2013jaw tumour 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