title: Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma.
abstract: 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.
authors: Department of Laboratory Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Republic of Korea.
authors: Ji Young
authors: JY
authors: Huh
authors: Min-Jung
authors: MJ
authors: Kwon
authors: Kyu Young
authors: KY
authors: Seo
authors: Moon Kyu
authors: MK
authors: Kim
authors: Kyu Young
authors: KY
authors: Chae
authors: Se Hoon
authors: SH
authors: Kim
authors: Chang-Seok
authors: CS
authors: Ki
authors: Moon Soo
authors: MS
authors: Yoon
authors: Dong Hyun
authors: DH
authors: Kim
mesh_terms: D001483:Base Sequence; D001851:Bone Diseases, Metabolic / Q000235:genetics* / Q000473:pathology; D002528:Cerebellar Neoplasms / Q000235:genetics*; D002864:Chromogranins; D018389:Codon, Nonsense; D004273:DNA, Neoplasm / Q000235:genetics; D017809:Fatal Outcome; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008527:Medulloblastoma / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D009999:Ossification, Heterotopic / Q000235:genetics* / Q000473:pathology; D012873:Skin Diseases, Genetic / Q000235:genetics* / Q000473:pathology
chemical_list: D002864:Chromogranins; D018389:Codon, Nonsense; D004273:DNA, Neoplasm; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs
keywords: GNAS; genetic skin diseases; heterotopic ossification; medulloblastoma; osteoma cutis