ArticleJournal of clinical laboratory analysis2022
Hereditary intraspinal schwannomatosis with SMARCB1 gene mutation: A case report.
Article in Journal of clinical laboratory analysis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 4 citations in OpenAlex.
- Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analyses.Neurogenetics · 2025Article
- Hereditary intraspinal schwannomatosis with SMARCB1 gene mutation: A case report.Journal of clinical laboratory analysis · 2022Article
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7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundSchwannomatosis 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.
conclusionsSchwannomatosis 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.
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