{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T19:28:56Z","timestamp":1772134136617,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,4,19]],"date-time":"2017-04-19T00:00:00Z","timestamp":1492560000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,11]]},"abstract":"Schwannomatosis is a rare neurofibromatosis clinically diagnosed by age\u2010dependent criteria, with bilateral vestibular schwannoma and\/or a constitutional NF2<\/jats:styled-content><\/jats:italic> mutation representing exclusion criteria. Following SMARCB1<\/jats:styled-content><\/jats:italic> germline mutations, constitutional mutations in LZTR1<\/jats:styled-content><\/jats:italic> were discovered. We report on the molecular investigation in a patient presenting at 14 years with a unilateral vestibular schwannoma, ultimately causing blindness and unilateral hearing loss, in the absence of other schwannomas or a positive family history.<\/jats:p>In DNA<\/jats:styled-content> derived from frozen tumor tissue, a comprehensive NF2<\/jats:styled-content><\/jats:italic>, SMARCB1<\/jats:styled-content><\/jats:italic> and LZTR1<\/jats:styled-content><\/jats:italic> analysis showed an NF2<\/jats:styled-content><\/jats:italic> truncating mutation c.1006_1021delins16; an LZTR1<\/jats:styled-content><\/jats:italic> mutation c.791+1G<\/jats:styled-content>>A; and a partial 22q deletion including NF2<\/jats:styled-content>, SMARCB1<\/jats:styled-content><\/jats:italic> and LZTR1<\/jats:styled-content><\/jats:italic>. Sequence analysis on peripheral blood derived DNA<\/jats:styled-content> showed the LZTR1<\/jats:styled-content><\/jats:italic> mutation to be constitutional, but the NF2<\/jats:styled-content><\/jats:italic> mutation and partial 22q deletion were not found, indicating them to be somatic events. RNA<\/jats:styled-content>\u2010based targeted analysis confirmed missplicing of LZTR1<\/jats:styled-content><\/jats:italic> intron 8, predicted to result in a premature stop codon. This LZTR1<\/jats:styled-content><\/jats:italic> mutation was paternally inherited.<\/jats:p>While isolated vestibular schwannoma or NF2<\/jats:styled-content> may be considered in a young individual with a unilateral vestibular schwannoma, this report suggests that \nLZTR1<\/jats:styled-content>\n<\/jats:italic>\u2010related schwannomatosis be added to this differential diagnosis.<\/jats:p>","DOI":"10.1111\/cge.13013","type":"journal-article","created":{"date-parts":[[2017,3,14]],"date-time":"2017-03-14T21:33:43Z","timestamp":1489527223000},"page":"540-543","source":"Crossref","is-referenced-by-count":13,"title":["Constitutional LZTR1<\/scp><\/i> mutation presenting with a unilateral vestibular schwannoma in a teenager"],"prefix":"10.1111","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8200-1733","authenticated-orcid":false,"given":"K.W.","family":"Gripp","sequence":"first","affiliation":[{"name":"A. I. du Pont Hospital for Children\/Nemours Wilmington Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Baker","sequence":"additional","affiliation":[{"name":"A. I. du Pont Hospital for Children\/Nemours Wilmington Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Kandula","sequence":"additional","affiliation":[{"name":"A. I. du Pont Hospital for Children\/Nemours Wilmington Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Piatt","sequence":"additional","affiliation":[{"name":"A. I. du Pont Hospital for Children\/Nemours Wilmington Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Walter","sequence":"additional","affiliation":[{"name":"A. I. du Pont Hospital for Children\/Nemours Wilmington Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.","family":"Chen","sequence":"additional","affiliation":[{"name":"University of Alabama Birmingham Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Messiaen","sequence":"additional","affiliation":[{"name":"University of Alabama Birmingham Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,19]]},"reference":[{"key":"e_1_2_7_2_1","volume-title":"Neurofibromatosis 1","author":"Friedman JM","year":"1998"},{"key":"e_1_2_7_3_1","volume-title":"Neurofibromatosis 2","author":"Evans DG","year":"1998"},{"key":"e_1_2_7_4_1","volume-title":"Bergner A","author":"Yohay K","year":"2016"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000163982.78900.AD"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000201190.89751.41"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35760"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2855"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000001129"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.220"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20679"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003418"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01816.x"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13013","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13013","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T05:15:00Z","timestamp":1694322900000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13013"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,19]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["10.1111\/cge.13013"],"URL":"https:\/\/doi.org\/10.1111\/cge.13013","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,19]]}}}