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Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma.
J Dermatol. 2014 Apr; 41(4):319-21.JD

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+Show Affiliations

Department of Laboratory Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Republic of Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24517547

Citation

Huh, Ji Young, et al. "Novel Nonsense GNAS Mutation in a 14-month-old Boy With Plate-like Osteoma Cutis and Medulloblastoma." The Journal of Dermatology, vol. 41, no. 4, 2014, pp. 319-21.
Huh JY, Kwon MJ, Seo KY, et al. Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma. J Dermatol. 2014;41(4):319-21.
Huh, J. Y., Kwon, M. J., Seo, K. Y., Kim, M. K., Chae, K. Y., Kim, S. H., Ki, C. S., Yoon, M. S., & Kim, D. H. (2014). Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma. The Journal of Dermatology, 41(4), 319-21. https://doi.org/10.1111/1346-8138.12284
Huh JY, et al. Novel Nonsense GNAS Mutation in a 14-month-old Boy With Plate-like Osteoma Cutis and Medulloblastoma. J Dermatol. 2014;41(4):319-21. PubMed PMID: 24517547.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel nonsense GNAS mutation in a 14-month-old boy with plate-like osteoma cutis and medulloblastoma. AU - Huh,Ji Young, AU - Kwon,Min-Jung, AU - Seo,Kyu Young, AU - Kim,Moon Kyu, AU - Chae,Kyu Young, AU - Kim,Se Hoon, AU - Ki,Chang-Seok, AU - Yoon,Moon Soo, AU - Kim,Dong Hyun, Y1 - 2014/02/11/ PY - 2013/01/11/received PY - 2013/08/09/accepted PY - 2014/2/13/entrez PY - 2014/2/13/pubmed PY - 2015/5/16/medline KW - GNAS KW - genetic skin diseases KW - heterotopic ossification KW - medulloblastoma KW - osteoma cutis SP - 319 EP - 21 JF - The Journal of dermatology JO - J. Dermatol. VL - 41 IS - 4 N2 - 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. SN - 1346-8138 UR - https://www.unboundmedicine.com/medline/citation/24517547/Novel_nonsense_GNAS_mutation_in_a_14_month_old_boy_with_plate_like_osteoma_cutis_and_medulloblastoma_ L2 - https://doi.org/10.1111/1346-8138.12284 DB - PRIME DP - Unbound Medicine ER -