{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T02:09:23Z","timestamp":1791857363311,"version":"4.3.4"},"reference-count":45,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T00:00:00Z","timestamp":1697414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Mutations in\n                      <jats:italic>PTH1R<\/jats:italic>\n                      are associated with Jansen\u2010type metaphyseal chondrodysplasia (JMC), Blomstrand osteochondrodysplasia (BOCD), Eiken syndrome, enchondroma, and primary failure of tooth eruption (PFE). Inheritance of the\n                      <jats:italic>PTH1R<\/jats:italic>\n                      gene can be either autosomal dominant or autosomal recessive, indicating the complexity of the gene. Our objective was to identify the phenotypic differences in members of a family with a novel\n                      <jats:italic>PTH1R<\/jats:italic>\n                      mutation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The proband was a 13\u2010year, 6\u2010month\u2010old girl presenting with short stature, abnormal tooth eruption, skeletal dysplasia, and midface hypoplasia. The brother and father of the proband presented with short stature and abnormal tooth eruption. High\u2010throughput sequencing was performed on the proband, and the variant was confirmed in the proband and other family members by Sanger sequencing. Amino acid sequence alignment was performed using ClustalX software. Three\u2010dimensional structures were analyzed and displayed using the I\u2010TASSER website and PyMOL software.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      High\u2010throughput genome sequencing and Sanger sequencing validation showed that the proband, her father, and her brother all carried the\n                      <jats:italic>PTH1R<\/jats:italic>\n                      (NM_000316) c.1393G&gt;A (p.E465K) mutation. The c.1393G&gt;A (p.E465K) mutation was novel, as it has not been reported in the literature database. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, the p.E465K variant was considered to have uncertain significance. Biological information analysis demonstrated that this identified variant was highly conserved and highly likely pathogenic.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We identified a novel heterozygous mutation in the\n                      <jats:italic>PTH1R<\/jats:italic>\n                      gene leading to clinical manifestations with incomplete penetrance that expands the spectrum of known\n                      <jats:italic>PTH1R<\/jats:italic>\n                      mutations.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.2301","type":"journal-article","created":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T03:34:01Z","timestamp":1697427241000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Identification of a novel heterozygous\n                    <i>PTH1R<\/i>\n                    variant in a Chinese family with incomplete penetrance"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-4016-5510","authenticated-orcid":false,"given":"Jie","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Linyi People's Hospital Postgrad Training Base Jinzhou Med University  Linyi China"},{"name":"Department of Pediatrics Linyi People's Hospital  Linyi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaoyue","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Linyi People's Hospital Postgrad Training Base Jinzhou Med University  Linyi China"},{"name":"Department of Pediatrics Linyi People's Hospital  Linyi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Linyi People's Hospital Postgrad Training Base Jinzhou Med University  Linyi China"},{"name":"Department of Pediatrics Linyi People's Hospital  Linyi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Linyi People's Hospital  Linyi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanyan","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Linyi People's Hospital  Linyi 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