Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma
Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma
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DOI：
10.1111/1346-8138.12284
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发表时间：
2014-04-01
影响因子：
3.1
通讯作者：
Kim, Dong Hyun
中科院分区：
文献类型：
--
作者：
Huh, Ji Young;Kwon, Min-Jung;Kim, Dong Hyun
板状皮肤骨瘤是一种以表面骨化为特征的皮肤病，在没有任何潜在组织异常或预先存在钙化的情况下很少发生。PLOC的遗传形式主要是由于GNAS基因的失活突变。GNAS基因的失活突变与几种疾病有关，这些疾病通常表现为异位骨化和激素抵抗;然而，恶性肿瘤的发展从未报道过。在此，我们报告了一例GNAS基因发生新型无义突变的患者，并发PLOC和髓母细胞瘤。
Plate-like osteoma cutis (PLOC) is a dermatological disorder characterized by superficial ossification and rarely occurs without any underlying tissue abnormalities or pre-existing calcification. The hereditary form of PLOC is mainly due to inactivating mutation in the GNAS gene. Inactivating mutation of the GNAS gene is associated with several diseases, which commonly manifest heterotopic ossification and hormonal resistance; however, the development of malignant neoplasm has never been reported. Herein, we report a case of a patient with a novel nonsense mutation in the GNAS gene, who presented with concurrent PLOC and medulloblastoma.