{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,17]],"date-time":"2024-08-17T00:23:20Z","timestamp":1723854200183},"reference-count":17,"publisher":"Scientific Scholar","content-domain":{"domain":["surgicalneurologyint.com"],"crossmark-restriction":true},"short-container-title":[],"abstract":"\nBackground: <\/jats:title>\nSchwannomatosis is a rare genetic disorder marked by the emergence or predisposition to developing multiple schwannomas. Patients typically present with chronic pain or a mass in the second or third decade of life. Schwannomatosis is characterized by its associated gene, or if the specific gene is not known, then a descriptor is used. Here, we report a new Leucine zipper-like transcriptional regulator 1 (LZTR1) pathogenic variant identified in a pair of siblings with familial LZTR1-related schwannomatosis.<\/jats:p>\n<\/jats:sec>\n\nCase Descriptions: <\/jats:title>\nA 35-year-old male presented for evaluation of the left lower extremity pain. Magnetic resonance imaging (MRI) demonstrated multiple lesions throughout his body, highly likely for schwannomatosis. He underwent surgical resection of two of these lesions, located in the left femoral nerve and distal shin. Pathology confirmed that the resected lesions were schwannomas. Six months later, his 34-year-old sister was referred and evaluated for a right ankle mass, previously diagnosed as a ganglion cyst. MRI of her right ankle demonstrated a one-centimeter subcutaneous tumor. She underwent surgical resection, and pathology confirmed that the tumor was a schwannoma. Both siblings elected to undergo genetic analysis for pathogenic variants associated with schwannomatosis. Both results were positive for the c.263del pathogenic variant of the LZTR1 gene associated with LZTR1-related schwannomatosis. Additionally, genetic analysis also determined the mother of the siblings also carried the same c.263del pathogenic variant.<\/jats:p>\n<\/jats:sec>\n\nConclusion: <\/jats:title>\nThere are still schwannomatosis cases with novel switch\/sucrose non-fermentable-related matrix-associated actin-dependent regulators of chromatin subfamily B member 1 or LZTR1 mutations to be reported. We report the first three cases of the c.263+1del LZTR1 pathogenic variant causing LZTR1-related schwannomatosis initially found in the two siblings. Identifying further LZTR1 pathogenic variants can give more insight into the pathogenicity of each variant.<\/jats:p>\n<\/jats:sec>","DOI":"10.25259\/sni_193_2024","type":"journal-article","created":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T11:10:27Z","timestamp":1723806627000},"page":"285","update-policy":"http:\/\/dx.doi.org\/10.25259\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel leucine zipper-like transcriptional regulator 1 variant identified in a pair of siblings with familial schwannomatosis"],"prefix":"10.25259","volume":"15","author":[{"given":"Joseph","family":"Yunga Tigre","sequence":"first","affiliation":[{"name":"Department of Neurological Surgery, University of Miami Miller School of Medicine, Miami, Florida, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Levi","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, University of Miami Miller School of Medicine, Miami, Florida, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor M.","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, University of Miami Miller School of Medicine, Miami, Florida, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew J.","family":"Kloehn","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, University of Miami Miller School of Medicine, Miami, Florida, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Willa","family":"Thorson","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amr","family":"Abulaban","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine, Miami, Florida, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. Shelby","family":"Burks","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, University of Miami Miller School of Medicine, Miami, Florida, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allan D.","family":"Levi","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, University of Miami Miller School of Medicine, Miami, Florida, United States"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","published-online":{"date-parts":[[2024,8,16]]},"reference":[{"key":"10.25259\/SNI_193_2024\/ref-1","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":"10.25259\/SNI_193_2024\/ref-2","doi-asserted-by":"crossref","first-page":"671","DOI":"10.3390\/genes11060671","article-title":"Simultaneous detection of NF1, SPRED1, LZTR1, and NF2 gene mutations by targeted NGS in an Italian cohort of suspected NF1 patients","volume":"11","author":"Bianchessi","year":"2020","journal-title":"Genes (Basel)"},{"key":"10.25259\/SNI_193_2024\/ref-3","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1002\/humu.24376","article-title":"Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population","volume":"43","author":"Deng","year":"2022","journal-title":"Hum Mutat"},{"key":"10.25259\/SNI_193_2024\/ref-4","article-title":"LZTR1-and SMARCB1-related schwannomatosis","volume-title":"GeneReviews((R))","author":"Dhamija","year":"1993"},{"key":"10.25259\/SNI_193_2024\/ref-5","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1038\/s41431-022-01086-x","article-title":"ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis","volume":"30","author":"Evans","year":"2022","journal-title":"Eur J Hum Genet"},{"key":"10.25259\/SNI_193_2024\/ref-6","doi-asserted-by":"crossref","first-page":"2467","DOI":"10.1002\/ajmg.a.63346","article-title":"Neurofibromatosis-and schwannomatosis-associated tumors: Approaches to genetic testing and counseling considerations","volume":"191","author":"Goetsch Weisman","year":"2023","journal-title":"Am J Med Genet A"},{"key":"10.25259\/SNI_193_2024\/ref-7","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1111\/cge.13013","article-title":"Constitutional LZTR1 mutation presenting with a unilateral vestibular schwannoma in a teenager","volume":"92","author":"Gripp","year":"2017","journal-title":"Clin Genet"},{"key":"10.25259\/SNI_193_2024\/ref-8","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1111\/1523-1747.ep12613537","article-title":"Neurofibromatosis 2 and neurilemmomatosis gene are identical","volume":"104","author":"Honda","year":"1995","journal-title":"J Invest Dermatol"},{"key":"10.25259\/SNI_193_2024\/ref-9","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":"Kehrer-Sawatzki","year":"2017","journal-title":"Hum Genet"},{"key":"10.25259\/SNI_193_2024\/ref-10","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1007\/s00439-018-1909-9","article-title":"Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple nonintradermal schwannomas","volume":"137","author":"Kehrer-Sawatzki","year":"2018","journal-title":"Hum Genet"},{"key":"10.25259\/SNI_193_2024\/ref-11","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.3346\/jkms.2006.21.6.1136","article-title":"Schwannomatosis involving peripheral nerves: A case report","volume":"21","author":"Kim","year":"2006","journal-title":"J Korean Med Sci"},{"key":"10.25259\/SNI_193_2024\/ref-12","doi-asserted-by":"crossref","first-page":"e1560","DOI":"10.1002\/mgg3.1560","article-title":"LZTR1-related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis","volume":"9","author":"Muthusamy","year":"2021","journal-title":"Mol Genet Genomic Med"},{"key":"10.25259\/SNI_193_2024\/ref-13","doi-asserted-by":"crossref","first-page":"963","DOI":"10.1038\/ejhg.2014.220","article-title":"Expanding the mutational spectrum of LZTR1 in schwannomatosis","volume":"23","author":"Paganini","year":"2015","journal-title":"Eur J Hum Genet"},{"key":"10.25259\/SNI_193_2024\/ref-14","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/ng.2855","article-title":"Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas","volume":"46","author":"Piotrowski","year":"2014","journal-title":"Nat Genet"},{"key":"10.25259\/SNI_193_2024\/ref-15","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1016\/j.gim.2022.05.007","article-title":"Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation","volume":"24","author":"Plotkin","year":"2022","journal-title":"Genet Med"},{"key":"10.25259\/SNI_193_2024\/ref-16","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1080\/02688697.2020.1836323","article-title":"What to know about schwannomatosis: A literature review","volume":"36","author":"Schraepen","year":"2022","journal-title":"Br J Neurosurg"},{"key":"10.25259\/SNI_193_2024\/ref-17","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1212\/WNL.0000000000001129","article-title":"Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis","volume":"84","author":"Smith","year":"2015","journal-title":"Neurology"}],"container-title":["Surgical Neurology International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/surgicalneurologyint.com\/a-novel-leucine-zipper-like-transcriptional-regulator-1-variant-identified-in-a-pair-of-siblings-with-familial-schwannomatosis\/","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/surgicalneurologyint.com\/surgicalint-articles\/a-novel-leucine-zipper-like-transcriptional-regulator-1-variant-identified-in-a-pair-of-siblings-with-familial-schwannomatosis\/","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T11:10:35Z","timestamp":1723806635000},"score":1,"resource":{"primary":{"URL":"http:\/\/surgicalneurologyint.com\/surgicalint-articles\/a-novel-leucine-zipper-like-transcriptional-regulator-1-variant-identified-in-a-pair-of-siblings-with-familial-schwannomatosis\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,16]]},"references-count":17,"alternative-id":["10.25259\/SNI_193_2024"],"URL":"https:\/\/doi.org\/10.25259\/sni_193_2024","relation":{},"ISSN":["2152-7806","2229-5097"],"issn-type":[{"value":"2152-7806","type":"electronic"},{"value":"2229-5097","type":"print"}],"subject":[],"published":{"date-parts":[[2024,8,16]]},"article-number":"285"}}