{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T10:32:24Z","timestamp":1770287544330,"version":"3.49.0"},"reference-count":35,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,3,25]],"date-time":"2021-03-25T00:00:00Z","timestamp":1616630400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31900804"],"award-info":[{"award-number":["31900804"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Neurofibromatosis type 1 is an autosomal dominant inherited disease and caused by <jats:italic>NF1<\/jats:italic> gene mutation. Its clinical manifestations include multiple cafe\u00b4\u2010au lait (CAL) spots, skinfold freckling, neurofibroma, bone dysplasia, learning disabilities, and an increased risk of malignancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and Results<\/jats:title><jats:p>Here, we reported a Chinese patient bearing with a novel <jats:italic>NF1<\/jats:italic> mutation (c.2064delGGATGCAGCGG\/p.Gly672AsnfsTer24) and complaining mainly about bone phenotype. Functional studies found that this novel mutation caused the damage of NF1 mRNA and protein levels, and lost the inhibition on Ras\/Erk signaling.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A novel mutation in <jats:italic>NF1<\/jats:italic> gene was identified and <jats:italic>in vitro<\/jats:italic> functional studies were performed, which provided a potential molecular mechanism to explain the bone maldevelopment of patients with neurofibromatosis type 1.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1643","type":"journal-article","created":{"date-parts":[[2021,3,25]],"date-time":"2021-03-25T09:08:21Z","timestamp":1616663301000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel mutation in <i>NF1<\/i> gene of patient with Neurofibromatosis type 1: A case report and functional study"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7362-6608","authenticated-orcid":false,"given":"Tingting","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Pediatrics Ruijin Hospital Affiliated to Shanghai Jiao Tong University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caiwei","family":"Jia","sequence":"additional","affiliation":[{"name":"Cancer Center Shanghai Tenth People\u2019s Hospital School of Medicine Tongji University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2436-7857","authenticated-orcid":false,"given":"Zhiya","family":"Dong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ruijin Hospital Affiliated to Shanghai Jiao Tong University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuanyin","family":"Li","sequence":"additional","affiliation":[{"name":"Cancer Center Shanghai Tenth People\u2019s Hospital School of Medicine Tongji University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenli","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Ruijin Hospital Affiliated to Shanghai Jiao Tong University Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,3,25]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00001"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2015.12.034"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.13932"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30813"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.103.6.1257"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4644(20000301)76:3<354::AID-JCB2>3.0.CO;2-U"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2005.01.022"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00245-8"},{"key":"e_1_2_9_10_1","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1097\/00003086-198908000-00007","article-title":"Pitfalls of spinal deformities associated with neurofibromatosis in children","volume":"245","author":"Crawford A. 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