{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T10:29:39Z","timestamp":1771669779530,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2014,5,6]],"date-time":"2014-05-06T00:00:00Z","timestamp":1399334400000},"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":[[2014,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Hyperparathyroidism\u2010jaw tumour syndrome (<jats:styled-content style=\"fixed-case\">HPT<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">JT<\/jats:styled-content>) and familial isolated primary hyperparathyroidism (<jats:styled-content style=\"fixed-case\">FIHP<\/jats:styled-content>) are two subtypes of familial primary hyperparathyroidism, which are rarely reported in Chinese population. Here, we reported three <jats:styled-content style=\"fixed-case\">FIHP<\/jats:styled-content> families and one <jats:styled-content style=\"fixed-case\">HPT<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">JT<\/jats:styled-content> family with long\u2010term follow\u2010up and genetic analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design and methods<\/jats:title><jats:p>A total of 22 patients, from four FIHP\/HPT\u2010JT families of Chinese descent, were recruited and genomic DNA was extracted from their peripheral blood lymphocytes. Direct sequencing for <jats:italic>MEN1<\/jats:italic>,<jats:italic> CDC73, CASR<\/jats:italic> gene was conducted. Reverse transcription PCR (RT\u2013PCR) and quantitative real\u2010time PCR (<jats:styled-content style=\"fixed-case\">qRT<\/jats:styled-content>\u2010PCR) were used to study the effect of splice site mutations and gross deletion mutations. Immunohistochemistry was performed to analyse parafibromin expression in parathyroid tumours. Genotype\u2013phenotype correlations were assessed through clinical characteristics and long\u2010term follow\u2010up data.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Genetic analysis revealed four <jats:italic><jats:styled-content style=\"fixed-case\">CDC<\/jats:styled-content>73<\/jats:italic> germline mutations that were responsible for the four kindreds, including two novel point mutation (c.157 G&gt;T and <jats:styled-content style=\"fixed-case\">IVS<\/jats:styled-content>3+1 G&gt;A), one recurrent point mutation (c.664 C&gt;T) and one deletion mutation (c.307+?_513\u2010?del exons 4, 5, 6). <jats:styled-content style=\"fixed-case\">RT<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content> confirmed that <jats:styled-content style=\"fixed-case\">IVS<\/jats:styled-content>3+1 G&gt;A generated an aberrant transcript with exon3 deletion. Immunohistochemical analysis demonstrated reduced nuclear parafibromin expression in tumours supporting the pathogenic effects of these mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study supplies information on mutations and phenotypes of <jats:styled-content style=\"fixed-case\">HPT<\/jats:styled-content>\u2010<jats:styled-content style=\"fixed-case\">JT<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">FIHP<\/jats:styled-content> syndrome in Chinese. Screening for gross deletion and point mutations of the <jats:italic><jats:styled-content style=\"fixed-case\">CDC<\/jats:styled-content>73<\/jats:italic> gene is necessary in susceptible subjects.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.12461","type":"journal-article","created":{"date-parts":[[2014,4,10]],"date-time":"2014-04-10T07:27:06Z","timestamp":1397114826000},"page":"222-230","source":"Crossref","is-referenced-by-count":27,"title":["Familial isolated primary hyperparathyroidism\/hyperparathyroidism\u2010jaw tumour syndrome caused by germline gross deletion or point\u00a0mutations of <i><scp>CDC<\/scp>73<\/i> gene in Chinese"],"prefix":"10.1111","volume":"81","author":[{"given":"Jing","family":"Kong","sequence":"first","affiliation":[{"name":"Key laboratory of Endocrinology Ministry of Health Department of Endocrinology Peking Union Medical College Hospital Peking Union Medical College Chinese Academy of Medical Sciences Beijing 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