Open AccessHereditary intraspinal schwannomatosis with SMARCB1 gene mutation: A case report
Author(s) -
Li Yu,
Chen Lulu,
Shao Dongqi,
Zhang Binbin,
Xie Shan,
Zheng Xialin,
Jiang Zhiquan
Publication year - 2022
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.24448
Subject(s) - smarcb1 , neurofibromatosis , neurofibromatoses , germline mutation , schwannoma , neurofibromatosis type 2 , mutation , medicine , germline , genetic testing , genetics , pathology , gene , biology , chromatin remodeling , chromatin
Background Schwannomatosis is the third subtype of neurofibromatosis. Schwannomatosis, particularly the familial variant, is uncommon. Recently, germline mutations of the SMARCB1 gene have been found to cause schwannomatosis. In this report, we describe a case of familial inherited intraspinal schwannomatosis. Postoperative pathology indicated a schwannoma. The results of gene testing showed that the SMARCB1 gene had a spliced mutation. Case description A patient with a rare case of familial intraluminal schwannomatosis was admitted to our hospital. Peripheral blood gene testing was performed on the patient and her son, and a splice mutation of the SMARCB1 gene located at C. 1118+1G>A on intron 8 was identified. Conclusions Schwannomatosis is an incomplete dominant autosomal dominant genetic disorder. The structural and functional abnormalities of proteins caused by mutations in the SMARCB1 gene may be the molecular basis for familial schwannomatosis.