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

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.