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dc.contributor.author신수진-
dc.date.accessioned2019-11-26T06:22:02Z-
dc.date.available2019-11-26T06:22:02Z-
dc.date.issued2017-06-
dc.identifier.citationSCIENTIFIC REPORTS, v. 7, Article no. 2836en_US
dc.identifier.issn2045-2322-
dc.identifier.urihttps://www.nature.com/articles/s41598-017-03093-1-
dc.identifier.urihttps://repository.hanyang.ac.kr/handle/20.500.11754/114678-
dc.description.abstractGuanine nucleotide-binding protein/alpha-subunit (GNAS) mutations are involved in fibrous dysplasia (FD) pathogenesis. Here, we analyzed GNAS mutations in FD which were performed by pyrosequencing DNA isolated from formalin-fixed paraffin-embedded (FFPE) tissue. The mutation detection rate was determined in FD specimens with and without decalcification. GNAS mutation was identified in 28 cases out of 87 FDs (32.18%) [p.R201C (N = 14) and p. R201H (N = 14)]. GNAS mutation was more likely to occur in polyostotic FD (7/28, 25.0%); FD without GNAS mutation was mostly monostotic form (56/59, 94.9%, P = 0.011). The G > A (R201H) mutation was more frequent in polyostotic FD (6/14 patients, 42.9%) than the C > T (R201C) mutation (1/14, 7.1%) (P = 0.077). We divided the FD cases into two subgroups: tissue specimens that were not decalcified (N = 35, 40.2%), and tissue specimens that were decalcified (N = 52, 59.8%). GNAS mutation was more frequently identified in FD specimens that were not subjected to decalcification (23/35, 65.7%) than in FD specimens that were decalcified (5/52, 9.6%) (P = 0.001). In conclusion, mutation analysis of GNAS by pyrosequencing has diagnostic value in FFPE tissue of patients with FD, especially in specimens that were not decalcified. The R201H substitution mutation of GNAS may be involved in the pathogenesis of polyostotic FD.en_US
dc.description.sponsorshipThis work was supported by a faculty research grant of Yonsei University College of Medicine (6-2015-0087 and 6-2016-0034).en_US
dc.language.isoen_USen_US
dc.publisherNATURE PUBLISHING GROUPen_US
dc.subjectMCCUNE-ALBRIGHT-SYNDROMEen_US
dc.subjectACTIVATING G(S)ALPHA MUTATIONen_US
dc.subjectSTIMULATORY G-PROTEINen_US
dc.subjectGS-ALPHA MUTATIONen_US
dc.subjectOSSIFYING FIBROMAen_US
dc.subjectMOLECULAR-BASISen_US
dc.subjectBONEen_US
dc.subjectGENEen_US
dc.subjectSUBUNITen_US
dc.subjectDEFECTSen_US
dc.titleFrequency of GNAS R201H substitution mutation in polyostotic fibrous dysplasia: Pyrosequencing analysis in tissue samples with or without decalcificationen_US
dc.typeArticleen_US
dc.relation.volume7-
dc.identifier.doi10.1038/s41598-017-03093-1-
dc.relation.journalSCIENTIFIC REPORTS-
dc.contributor.googleauthorShin, Su-Jin-
dc.contributor.googleauthorLee, Seok Joo-
dc.contributor.googleauthorKim, Sang Kyum-
dc.relation.code2017003408-
dc.sector.campusS-
dc.sector.daehakCOLLEGE OF MEDICINE[S]-
dc.sector.departmentDEPARTMENT OF MEDICINE-
dc.identifier.pidcharm-
dc.identifier.researcherIDK-3248-2017-
dc.identifier.orcidhttp://orcid.org/0000-0001-9114-8438-


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