{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T15:49:19Z","timestamp":1774712959192,"version":"3.50.1"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,1,12]],"date-time":"2025-01-12T00:00:00Z","timestamp":1736640000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81700994"],"award-info":[{"award-number":["81700994"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81700945"],"award-info":[{"award-number":["81700945"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81671006"],"award-info":[{"award-number":["81671006"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81030018"],"award-info":[{"award-number":["81030018"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005089","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["7172238"],"award-info":[{"award-number":["7172238"]}],"id":[{"id":"10.13039\/501100005089","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Oral Pathology Medicine"],"published-print":{"date-parts":[[2025,2]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n \n Fibrous dysplasia (FD), caused by activating mutations of\n GNAS<\/jats:italic>\n , is a skeletal disorder with considerable clinicopathological heterogeneity. Although prevalent mutations such as R201C and R201H dominate in FD, a limited number of rare mutations, including R201S, R201G, and Q227L, have been documented. The scarcity of information concerning these uncommon mutations motivates our investigation, seeking to enhance comprehension of this less\u2010explored subgroup within FD.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n This study introduces three cases of craniofacial FD exhibiting rare\n GNAS<\/jats:italic>\n mutations. Employing DNA sequencing on fresh frozen lesion tissues, we conducted a thorough analysis of clinical, radiological, and pathological features, delving into genotypic and phenotypic correlations. A comparative assessment with our previous series was also conducted.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n In the subset of patients subjected to DNA sequencing, a novel\n GNAS<\/jats:italic>\n missense mutation (Q227E) was identified in one case, while a rare\n GNAS<\/jats:italic>\n mutation (R201S) in exon 8 was found in the other two patients. Although no apparent phenotypic distinctions were observed among those with\n GNAS<\/jats:italic>\n hotspot mutations (R201C, R201H), a more severe phenotype was discerned in the case featuring the novel\n GNAS<\/jats:italic>\n mutation Q227E.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n This study marks the first report of the Q227E mutation in the\n GNAS<\/jats:italic>\n gene associated with bone disease, enriching our understanding of FD's genetic basis and shedding light on the clinicopathological heterogeneity of craniofacial FD.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/jop.13599","type":"journal-article","created":{"date-parts":[[2025,1,12]],"date-time":"2025-01-12T19:34:41Z","timestamp":1736710481000},"page":"120-125","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of Novel and Rare\n \n GNAS<\/i>\n <\/scp>\n Mutations in Craniofacial Fibrous Dysplasia"],"prefix":"10.1111","volume":"54","author":[{"given":"Jiang","family":"Xue","sequence":"first","affiliation":[{"name":"Department of Oral Pathology Peking University School and Hospital of Stomatology Beijing China"},{"name":"Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions, Chinese Academy of Medical Sciences (2019RU034) Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianyun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology Peking University School and Hospital of Stomatology Beijing China"},{"name":"Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions, Chinese Academy of Medical Sciences (2019RU034) Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Ma","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology Peking University School and Hospital of Stomatology Beijing China"},{"name":"Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions, Chinese Academy of Medical Sciences (2019RU034) Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuefen","family":"Li","sequence":"additional","affiliation":[{"name":"Central Laboratory Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4571-3739","authenticated-orcid":false,"given":"Lisha","family":"Sun","sequence":"additional","affiliation":[{"name":"Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions, Chinese Academy of Medical Sciences (2019RU034) Beijing People's Republic of China"},{"name":"Central Laboratory Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8178-5254","authenticated-orcid":false,"given":"Ruirui","family":"Shi","sequence":"additional","affiliation":[{"name":"Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions, Chinese Academy of Medical Sciences (2019RU034) Beijing People's Republic of China"},{"name":"Central Laboratory Peking University School and Hospital of Stomatology Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5983-2985","authenticated-orcid":false,"given":"Tiejun","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology Peking University School and Hospital of Stomatology Beijing China"},{"name":"Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions, Chinese Academy of Medical Sciences (2019RU034) Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,1,12]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/endrev\/bnz011"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/modpathol.2013.31"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S8756-3282(97)00107-5"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.1999.14.11.1987"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2559.2007.02676.x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22854"},{"issue":"7","key":"e_1_2_9_8_1","first-page":"1059","article-title":"A New Constitutively Activating Mutation of the Gs Protein Alpha Subunit\u2010Gsp Oncogene Is Found in Human Pituitary Tumours","volume":"5","author":"Clementi 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