Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma

Ji Young Huh, Min Jung Kwon, Kyu Young Seo, Moon Kyu Kim, Kyu Young Chae, SeHoon Kim, Chang Seok Ki, Moon Soo Yoon, Dong Hyun Kim

Research output: Contribution to journalArticle

11 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)319-321
Number of pages3
JournalJournal of Dermatology
Volume41
Issue number4
DOIs
Publication statusPublished - 2014 Jan 1

Fingerprint

Medulloblastoma
Nonsense Codon
Genes
Heterotopic Ossification
Mutation
Osteogenesis
Progressive Osseous Heteroplasia
Neoplasms

All Science Journal Classification (ASJC) codes

  • Dermatology

Cite this

Huh, Ji Young ; Kwon, Min Jung ; Seo, Kyu Young ; Kim, Moon Kyu ; Chae, Kyu Young ; Kim, SeHoon ; Ki, Chang Seok ; Yoon, Moon Soo ; Kim, Dong Hyun. / Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma. In: Journal of Dermatology. 2014 ; Vol. 41, No. 4. pp. 319-321.
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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.",
author = "Huh, {Ji Young} and Kwon, {Min Jung} and Seo, {Kyu Young} and Kim, {Moon Kyu} and Chae, {Kyu Young} and SeHoon Kim and Ki, {Chang Seok} and Yoon, {Moon Soo} and Kim, {Dong Hyun}",
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Huh, JY, Kwon, MJ, Seo, KY, Kim, MK, Chae, KY, Kim, S, Ki, CS, Yoon, MS & Kim, DH 2014, 'Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma', Journal of Dermatology, vol. 41, no. 4, pp. 319-321. https://doi.org/10.1111/1346-8138.12284

Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma. / Huh, Ji Young; Kwon, Min Jung; Seo, Kyu Young; Kim, Moon Kyu; Chae, Kyu Young; Kim, SeHoon; Ki, Chang Seok; Yoon, Moon Soo; Kim, Dong Hyun.

In: Journal of Dermatology, Vol. 41, No. 4, 01.01.2014, p. 319-321.

Research output: Contribution to journalArticle

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AU - Huh, Ji Young

AU - Kwon, Min Jung

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AU - Kim, Moon Kyu

AU - Chae, Kyu Young

AU - Kim, SeHoon

AU - Ki, Chang Seok

AU - Yoon, Moon Soo

AU - Kim, Dong Hyun

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