{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T04:43:36Z","timestamp":1760244216263,"version":"build-2065373602"},"reference-count":9,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T00:00:00Z","timestamp":1667433600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","award":["NRF-2020R1A2C2101942"],"award-info":[{"award-number":["NRF-2020R1A2C2101942"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Biomedical Research Institute, Jeonbuk National University Hospital","award":["NRF-2020R1A2C2101942"],"award-info":[{"award-number":["NRF-2020R1A2C2101942"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Schwannomatosis is characterized by the presence of multiple schwannomas without landmarks of NF2. It is considered the rarest form of neurofibromatosis (NF). Here, we report the first case of familial schwannomatosis with regard to the segmental\/generalized phenotype, in which the proband and the daughter present a distinct phenotype in this classification. The proband presents a generalized, painless, extradural type of schwannomatosis, while the daughter shows a segmental, painful, intradural type of schwannomatosis. Whole-exome sequencing of the affected individuals revealed a shared novel SMARCB1 gene mutation (c.92A &gt; G, p.Glu31Gly) despite the clinical variability. We thus suggest two points in the diagnosis of familial schwannomatosis: The identified novel germline SMARCB1 variant can be reflective of a phenotypical progression from a segmental to a generalized type of schwannomatosis, or an intrafamilial variability in inherited schwannomatosis, which was not reported in previous literature. The specific combination of somatic NF2 mutations may be a major factor in regulating the severity and scope of the resulting phenotype in schwannomatosis.<\/jats:p>","DOI":"10.3390\/medicina58111592","type":"journal-article","created":{"date-parts":[[2022,11,4]],"date-time":"2022-11-04T04:00:51Z","timestamp":1667534451000},"page":"1592","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Rare Case of Familial Schwannomatosis Showing Intrafamilial Variability with Identification of a Shared Novel Germline SMARCB1 Mutation"],"prefix":"10.3390","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0366-3689","authenticated-orcid":false,"given":"Jun Hyun","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Jeonbuk National University School of Medicine, Jeonju 54907, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4635-8302","authenticated-orcid":false,"given":"Jae Seok","family":"Jeong","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Jeonbuk National University School of Medicine, Jeonju 54907, Korea"},{"name":"Department of Internal Medicine, Research Center for Pulmonary Disorders, Jeonbuk National University School of Medicine, Jeonju 54907, Korea"},{"name":"Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kum Ju","family":"Chae","sequence":"additional","affiliation":[{"name":"Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Korea"},{"name":"Department of Radiology, Jeonbuk National University School of Medicine, Jeonju 54907, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yeon-Hee","family":"Han","sequence":"additional","affiliation":[{"name":"Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Korea"},{"name":"Department of Nuclear Medicine, Jeonbuk National University Medical School, Jeonju 54907, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6074-9158","authenticated-orcid":false,"given":"So Ri","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Jeonbuk National University School of Medicine, Jeonju 54907, Korea"},{"name":"Department of Internal Medicine, Research Center for Pulmonary Disorders, Jeonbuk National University School of Medicine, Jeonju 54907, Korea"},{"name":"Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong Chul","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Jeonbuk National University School of Medicine, Jeonju 54907, Korea"},{"name":"Department of Internal Medicine, Research Center for Pulmonary Disorders, Jeonbuk National University School of Medicine, Jeonju 54907, Korea"},{"name":"Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,3]]},"reference":[{"key":"ref_1","first-page":"215","article-title":"Ancient schwannoma\u2014A rare case","volume":"22","author":"Shilpa","year":"2012","journal-title":"Ethiop. J. Health Sci."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"5850","DOI":"10.3390\/ijms22115850","article-title":"Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis","volume":"22","author":"Ryota","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/s100480050060","article-title":"Allelic expression of the NF2 gene in neurofibromatosis 2 and schwannomatosis","volume":"2","author":"Jacoby","year":"1999","journal-title":"Neurogenetics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1002\/ajmg.a.35760","article-title":"Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria","volume":"161","author":"Plotkin","year":"2013","journal-title":"Am. J. Med. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1136\/jnnp-2018-318538","article-title":"Schwannomatosis: A genetic and epidemiological study","volume":"89","author":"Evans","year":"2018","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1186\/s13023-019-1176-4","article-title":"Segmental Schwannomatosis: Characteristics in 12 patients","volume":"14","author":"Alaidarous","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1007\/s00439-016-1753-8","article-title":"The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis","volume":"136","author":"Farschtschi","year":"2017","journal-title":"Human Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1007\/s10048-009-0204-2","article-title":"Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation","volume":"11","author":"Bacci","year":"2009","journal-title":"Neurogenetics"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"e9717","DOI":"10.1097\/MD.0000000000009717","article-title":"Pain correlates with germline mutation in schwannomatosis","volume":"97","author":"Jordan","year":"2018","journal-title":"Medicine"}],"container-title":["Medicina"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1648-9144\/58\/11\/1592\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:10:14Z","timestamp":1760145014000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1648-9144\/58\/11\/1592"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,3]]},"references-count":9,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2022,11]]}},"alternative-id":["medicina58111592"],"URL":"https:\/\/doi.org\/10.3390\/medicina58111592","relation":{},"ISSN":["1648-9144"],"issn-type":[{"type":"electronic","value":"1648-9144"}],"subject":[],"published":{"date-parts":[[2022,11,3]]}}}