• Yuhui Ding, Hongtao Rong, Yi Wang, Tong Liu, Jinhao Zhang, Sipeng Li, Zhe Wang, Ya Wang, and Tao Zhu.
• Department of Neurosurgery, Tianjin Medical University General Hospital, Heping District, Tianjin, China.
• World Neurosurg. 2019 Mar 1; 123: 318-322.

BackgroundSchwannomatosis is the third subtype of neurofibromatosis. Because the tumor is multiple and prone to recurrence, it often brings challenges to clinical diagnosis and treatment. In the past decade, researchers have come to realize the relationship between the SMARCB1 gene and schwannomatosis, which is expected to improve the current level of diagnosis and treatment.Case DescriptionWe collected the clinical data of intraspinal schwannomatosis in the same family, which is rare, and carried out the genetic tests on 3 generations of family members (N = 25). We found that 8 family members had germline mutations of the SMARCB1 gene, manifested as mutation at the splice site between SMARCB1 gene exon 8 and 9 (c.1118 + 1G > A).ConclusionsThe structural and functional abnormalities of proteins caused by the mutations of the SMARCB1 gene may be the molecular basis for the pathogenesis of schwannomatosis in this family. This study may provide clues for the study of schwannomatosis in the future.Copyright © 2018 Elsevier Inc. All rights reserved.

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