GNAS1基因新发突变致婴儿进行性骨发育异常一例

doi:10.3760/cma.j.issn.0412-4030.2019.07.013

中华皮肤科杂志 ›› 2019, Vol. 52 ›› Issue (7): 500-501.doi: 10.3760/cma.j.issn.0412-4030.2019.07.013

GNAS1基因新发突变致婴儿进行性骨发育异常一例

林杨杨¹ 宫泽琨¹ 赵丽² 李钦峰¹

¹天津市儿童医院皮肤科 300134；²天津市儿童医院病理科 300134

收稿日期:2019-02-01 修回日期:2019-02-27 出版日期:2019-07-15 发布日期:2019-07-01
通讯作者: 李钦峰 E-mail:lyz20061217@sina.com
作者简介:晋升需要，8月份能否见刊

Progressive osseous heteroplasia in an infant induced by a new mutation in the GNAS1 gene

Lin Yangyang¹, Gong Zekun¹, Zhao Li², Li Qinfeng¹

¹Department of Dermatology, Tianjin Children′s Hospital, Tianjin 300134, China; ²Department of Pathology, Tianjin Children′s Hospital, Tianjin 300134, China

Received:2019-02-01 Revised:2019-02-27 Online:2019-07-15 Published:2019-07-01
Contact: Li Qinfeng E-mail:lyz20061217@sina.com

摘要/Abstract

摘要： 患儿男，8个月，4个月时全身陆续多发结节及暗红褐色萎缩斑。患儿足月顺产，既往体健，无局部外伤史，母乳喂养，父母非近亲结婚，其母无异常孕产史，家族成员中无类似病史……

林杨杨宫泽琨赵丽李钦峰. GNAS1基因新发突变致婴儿进行性骨发育异常一例[J]. 中华皮肤科杂志, 2019, 52(7): 500-501.

Lin Yangyang, Gong Zekun, Zhao Li, Li Qinfeng. Progressive osseous heteroplasia in an infant induced by a new mutation in the GNAS1 gene[J]. Chinese Journal of Dermatology, 2019, 52(7): 500-501.

参考文献 11

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［7］	吴凤岐, 王理, 邹继珍, 等. 儿童进行性骨发育异常一例GNAS1基因突变及临床特征的研究［J］. 中华儿科杂志, 2012,50（1）:10⁃14. doi: 10.3760/cma.j.issn.0578⁃1310.2012.01. 003.
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［9］	Pignolo RJ, Ramaswamy G, Fong JT, et al. Progressive osseous heteroplasia: diagnosis, treatment, and prognosis［J］. Appl Clin Genet, 2015,8:37⁃48. doi: 10.2147/TACG.S51064.
［10］	Lebrun M, Richard N, Abeguilé G, et al. Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans［J］. J Clin Endocrinol Metab, 2010,95（6）:3028⁃3038. doi: 10.1210/jc.2009⁃1451.
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GNAS1基因新发突变致婴儿进行性骨发育异常一例

Progressive osseous heteroplasia in an infant induced by a new mutation in the GNAS1 gene

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