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Novel nonsense GNAS mutation in a 14‐month‐old boy with plate‐like osteoma cutis and medulloblastoma
Author(s) -
Huh Ji Young,
Kwon MinJung,
Seo Kyu Young,
Kim Moon Kyu,
Chae Kyu Young,
Kim Se Hoon,
Ki ChangSeok,
Yoon Moon Soo,
Kim Dong Hyun
Publication year - 2014
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.12284
Subject(s) - gnas complex locus , nonsense mutation , nonsense , osteoma , medicine , heterotopic ossification , medulloblastoma , ossification , missense mutation , cancer research , genetics , mutation , gene , biology , anatomy
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.