多骨性骨纤维异常增殖症伴GNAS新错义突变1例

doi:10.13701/j.cnki.kqyxyj.2024.09.015

口腔医学研究 ›› 2024, Vol. 40 ›› Issue (9): 837-839.DOI: 10.13701/j.cnki.kqyxyj.2024.09.015

多骨性骨纤维异常增殖症伴GNAS新错义突变1例

张兰兰, 王卫红^*

昆明医科大学附属口腔医院口腔颌面外科云南昆明 650106

收稿日期:2023-12-08 出版日期:2024-09-28 发布日期:2024-09-25
通讯作者: ^*王卫红,E-mail:wangweihong@kmmu.edu.cn
作者简介:张兰兰(1997~),女,河南驻马店人,博士在读,研究方向:颌面部肿瘤。
基金资助:
云南省卫健委医学领军人才项目(编号:L-2018010)

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

ZHANG Lanlan, WANG Weihong^*

Department of Oral and Maxillofacial Surgery, Affiliated Stomatology Hospital of Kunming Medical University, Kunming 650106, China

Received:2023-12-08 Online:2024-09-28 Published:2024-09-25

摘要/Abstract

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。

关键词: 多骨性骨纤维异常增殖症, GNAS基因, 基因突变

Abstract: 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.

Key words: polyostotic fibrous dysplasia, GNAS gene, gene mutation

张兰兰, 王卫红. 多骨性骨纤维异常增殖症伴GNAS新错义突变1例[J]. 口腔医学研究, 2024, 40(9): 837-839.

ZHANG Lanlan, WANG Weihong. A Case of Polyostotic Fibrous Dysplasia with a New Missense Mutation in GNAS[J]. Journal of Oral Science Research, 2024, 40(9): 837-839.

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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

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