{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T10:45:06Z","timestamp":1767177906642,"version":"build-2238731810"},"update-to":[{"DOI":"10.12688\/f1000research.28052.1","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T00:00:00Z","timestamp":1625011200000}}],"reference-count":13,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T00:00:00Z","timestamp":1625011200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001349","name":"National Medical Research Council, Ministry of Health, Singapore","doi-asserted-by":"publisher","award":["NMRC\/CG\/006\/2013"],"award-info":[{"award-number":["NMRC\/CG\/006\/2013"]}],"id":[{"id":"10.13039\/501100001349","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001349","name":"National Medical Research Council, Ministry of Health, Singapore","doi-asserted-by":"publisher","award":["NMRC\/CG\/M003\/2017"],"award-info":[{"award-number":["NMRC\/CG\/M003\/2017"]}],"id":[{"id":"10.13039\/501100001349","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns3:p>\n                    Neurofibromatosis 1 (NF1) is a neurocutaneous syndrome characterized by multiple caf\u00e9-au-lait macules, cutaneous neurofibromas or plexiform neurofibromas, iris Lisch nodules, axillary and inguinal freckling. Mosaicism in NF1 can either present as a generalized disease, or in a localized (segmental) manner. Mosaic generalized NF1 may have presentations that are similar to generalized NF1 or have a milder phenotype and hence may be under-recognised in clinical practice. We report a nonsense mutation in the\n                    <ns3:italic>NF1<\/ns3:italic>\n                    gene in a 55-year old Chinese male with the mosaic generalized phenotype. He reported noticing increasing numbers of skin-colored papules over his face, neck, back and abdomen when he was about 40 years old. From both next-generation and Sanger sequencing data, the variant appeared to be mosaic and present at about 24%. It is in exon 39 and has not been reported in any database or published literature.\n                  <\/ns3:p>","DOI":"10.12688\/f1000research.28052.2","type":"journal-article","created":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T10:51:10Z","timestamp":1625050270000},"page":"148","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype"],"prefix":"10.12688","volume":"10","author":[{"given":"Hui Li","family":"Kwong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong-Kwang","family":"Tay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5497-6058","authenticated-orcid":false,"given":"Ene-Choo","family":"Tan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2560","published-online":{"date-parts":[[2021,6,30]]},"reference":[{"key":"ref-1","article-title":"Neurofibromatosis 1.","author":"J Friedman","year":"2019"},{"key":"ref-2","doi-asserted-by":"publisher","first-page":"2188-97","DOI":"10.1128\/MCB.00019-14","article-title":"Neurofibromatosis type 1 alternative splicing is a key regulator of Ras signaling in neurons.","volume":"34","author":"M Hinman","year":"2014","journal-title":"Mol Cell Biol."},{"key":"ref-3","doi-asserted-by":"publisher","first-page":"9-17","DOI":"10.1111\/pde.12673","article-title":"Mosaic Neurofibromatosis Type 1: A Systematic Review.","volume":"33","author":"M Garc\u00eda-Romero","year":"2016","journal-title":"Pediatr Dermatol."},{"key":"ref-4","doi-asserted-by":"publisher","first-page":"433-6","DOI":"10.1136\/jmedgenet-2012-100918","article-title":"wANNOVAR: annotating genetic variants for personal genomes via the web.","volume":"49","author":"X Chang","year":"2012","journal-title":"J Med Genet."},{"key":"ref-5","doi-asserted-by":"publisher","first-page":"173-82","DOI":"10.1016\/j.anpedi.2014.10.010","article-title":"[Phenotypic and genetic features in neurofibromatosis type 1 in children].","volume":"83","author":"A Duat Rodr\u00edguez","year":"2015","journal-title":"An Pediatr (Barc)."},{"key":"ref-6","doi-asserted-by":"publisher","first-page":"1433-43","DOI":"10.1212\/wnl.56.11.1433","article-title":"The clinical and diagnostic implications of mosaicism in the neurofibromatoses.","volume":"56","author":"M Ruggieri","year":"2001","journal-title":"Neurology."},{"key":"ref-7","article-title":"Chapter 41, The Neurofibromatoses. Textbook of Paediatric Dermatology.","author":"S Huson","year":"2006"},{"key":"ref-8","doi-asserted-by":"publisher","first-page":"1932-9","DOI":"10.1016\/j.ajpath.2010.12.056","article-title":"The pathoetiology of neurofibromatosis 1.","volume":"178","author":"E Jouhilahti","year":"2011","journal-title":"Am J Pathol."},{"key":"ref-9","doi-asserted-by":"publisher","first-page":"106-10","DOI":"10.1111\/j.1365-2133.1994.tb06893.x","article-title":"What is segmental neurofibromatosis?","volume":"130","author":"C Moss","year":"1994","journal-title":"Br J Dermatol."},{"key":"ref-10","doi-asserted-by":"publisher","first-page":"178-80","DOI":"10.1002\/ajmg.1332","article-title":"Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5).","volume":"101","author":"M Ruggieri","year":"2001","journal-title":"Am J Med Genet."},{"key":"ref-11","doi-asserted-by":"publisher","first-page":"271-276","DOI":"10.1111\/pde.13094","article-title":"Cutaneous and Systemic Findings in Mosaic Neurofibromatosis Type 1.","volume":"34","author":"I V\u00e1zquez-Osorio","year":"2017","journal-title":"Pediatr Dermatol."},{"key":"ref-12","doi-asserted-by":"publisher","first-page":"1216-1217","DOI":"10.1111\/bjd.16929","article-title":"Genotype-phenotype data from a case series of patients with mosaic neurofibromatosis type 1.","volume":"179","author":"A Marwaha","year":"2018","journal-title":"Br J Dermatol."},{"key":"ref-13","doi-asserted-by":"publisher","first-page":"463-6","DOI":"10.1111\/j.0022-202X.2005.23834.x","article-title":"Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1.","volume":"125","author":"C Consoli","year":"2005","journal-title":"J Invest Dermatol."}],"container-title":["F1000Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/f1000research.com\/articles\/10-148\/v2\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/f1000research.com\/articles\/10-148\/v2\/pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/f1000research.com\/articles\/10-148\/v2\/iparadigms","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T10:51:14Z","timestamp":1625050274000},"score":1,"resource":{"primary":{"URL":"https:\/\/f1000research.com\/articles\/10-148\/v2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,30]]},"references-count":13,"URL":"https:\/\/doi.org\/10.12688\/f1000research.28052.2","relation":{},"ISSN":["2046-1402"],"issn-type":[{"value":"2046-1402","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,30]]},"assertion":[{"value":"Indexed","URL":"https:\/\/f1000research.com\/articles\/10-148\/v2#article-reports","order":0,"name":"referee-status","label":"Referee status","group":{"name":"current-referee-status","label":"Current Referee Status"}},{"value":"10.5256\/f1000research.31028.r80275, Richard J. Antaya, Departments of Dermatology and Pediatrics, Yale University School of Medicine, New Haven, CT, USA, 15 Mar 2021, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/10-148\/v1#referee-response-80275","order":0,"name":"referee-response-80275","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"<b>Ene Choo Tan<\/b>; \n<i>Posted: 23 Jun 2021<\/i>; We have deleted the word &quot;very&quot; from &quot;very rare&quot; in the Introduction. We also added more details about the patient, including his ethnicity and that his parents are not consanguineous, and the size and duration of his lesions. We also changed &quot;gonosomal&quot; to &quot;gonadal&quot; as suggested.","URL":"https:\/\/f1000research.com\/articles\/10-148\/v2#referee-comment-6829","order":1,"name":"referee-comment-6829","label":"Referee Comment","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.5256\/f1000research.31028.r83797, Joshua Tay, Department of Otolaryngology-Head and Neck Surgery, National University of Singapore, Singapore, Singapore, 18 Jun 2021, version 1, indexed","URL":"https:\/\/f1000research.com\/articles\/10-148\/v1#referee-response-83797","order":2,"name":"referee-response-83797","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"This work was supported by NMRC\/CG\/006\/2013 and NMRC\/CG\/M003\/2017 from the Singapore Ministry of Health\u2019s National Medical Research Council. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.","order":3,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}