Detection of germline mutations of the SMARCB1 gene in a Chinese family with intraspinal schwannomatosis.

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Detection of germline mutations of the SMARCB1 gene in a Chinese family with intraspinal schwannomatosis.

World Neurosurg. 2018 Dec 18;:

Authors: Ding Y, Zhu T, Rong H, Wang Y, Liu T, Zhang J, Li S, Wang Z, Wang Y

Abstract
BACKGROUND: Schwannomatosis 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 DESCRIPTION: We collected the clinical data of a rare family of intraspinal schwannomatosis and carried out the genetic tests on three generations, totally 25 members, in this family. It was found that 8 of them 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).
CONCLUSIONS: The 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.

PMID: 30576819 [PubMed - as supplied by publisher]

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