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Ann Child Neurol > Volume 26(3); 2018 > Article
Journal of the Korean Child Neurology Society 2018;26(3):175-179.
DOI: https://doi.org/10.26815/jkcns.2018.26.3.175    Published online September 30, 2018.
A Novel c.6766_6767insAA Mutation in the Neurofibromin Gene in a Patient with Neurofibromatosis Type 1-Associated Glioblastoma.
Eun Hye Yang, Young Mi Kim, Kyung Joon Kim, Seung Heon Cha, Min Jung Kwak
1Department of Pediatrics, Pusan National University Hospital, Pusan National University School of Medicine and Biochemical Research Institute, Busan, Korea. glorymj0123@gmail.com
2Department of Neurological Surgery, Pusan National University Hospital, Pusan National University School of Medicine and Biochemical Research Institute, Busan, Korea.
Abstract
Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous syndrome caused by mutations in the neurofibromin gene. NF-1 patients have a high risk of tumors, and optic glioma is the most commonly observed central nervous system tumor in these patients. However, glioblastoma is extremely rare in pediatric NF-1 patients. Here we report the discovery of a novel heterozygous c.6766_6767insAA (p.Ser2256Lysfs*4), pathogenic mutation in the neurofibromin gene in a 17-year-old boy with NF-1-associated glioblastoma.
Key Words: Glioblastoma, Mutation, Neurofibromatosis 1, Neurofibromin 1
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