多骨性骨纤维异常增殖症伴GNAS新错义突变1例  

A Case of Polyostotic Fibrous Dysplasia with a New Missense Mutation in GNAS

作　　者：张兰兰 王卫红[1] ZHANG Lanlan;WANG Weihong(Department of Oral and Maxillofacial Surgery,Affiliated Stomatology Hospital of Kunming Medical University,Kunming 650106,China)

机构地区：[1]昆明医科大学附属口腔医院口腔颌面外科,云南昆明650106

出　　处：《口腔医学研究》2024年第9期837-839,共3页Journal of Oral Science Research

基　　金：云南省卫健委医学领军人才项目(编号:L-2018010)。

摘　　要：本文报告1例存在鸟苷酸结合蛋白α活性刺激肽(guanine nucleotide binding protein alpha stimulating activity polypeptide,GNAS)基因突变(NM_016592.5;exon1/13;c.517G>C)的患者,目前尚未有关于该位点突变的报道。结合临床、影像学表现、组织病理学检查和全外显子基因检测,诊断为多骨性骨纤维异常增殖症。We report a case of fibrous dysplasia with a new missense mutation in GNAS(NM_016592.5;Exon 1/13;c.517G>C).Gene mutations in this site are not reported in fibrous dysplasia patients.Polyostotic fibrous dysplasia is diagnosed by the combination of imaging and clinical results,histopathological analysis,and the whole exon gene test.

关 键 词：多骨性骨纤维异常增殖症 GNAS基因 基因突变 

分 类 号：R782[医药卫生—口腔医学]