{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T19:49:02Z","timestamp":1769456942017,"version":"3.49.0"},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,4,21]],"date-time":"2022-04-21T00:00:00Z","timestamp":1650499200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Schwannomatosis is the third subtype of neurofibromatosis. Schwannomatosis, particularly the familial variant, is uncommon. Recently, germline mutations of the SMARCB1\u00a0gene 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\u00a0gene had a spliced mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case description<\/jats:title><jats:p>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\u00a0gene located at C. 1118+1G&gt;A on intron 8 was identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Schwannomatosis is an incomplete dominant autosomal dominant genetic disorder. The structural and functional abnormalities of proteins caused by mutations in the SMARCB1\u00a0gene may be the molecular basis for familial schwannomatosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.24448","type":"journal-article","created":{"date-parts":[[2022,4,21]],"date-time":"2022-04-21T18:29:58Z","timestamp":1650565798000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Hereditary intraspinal schwannomatosis with SMARCB1 gene mutation: A case report"],"prefix":"10.1002","volume":"36","author":[{"given":"Yu","family":"Li","sequence":"first","affiliation":[{"name":"Department of Neurosurgery The First Affiliated Hospital of Bengbu Medical College  Bengbu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lulu","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery The First Affiliated Hospital of Bengbu Medical College  Bengbu 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