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However, there are also numerous studies showing that Neurofibromatosis type 1-like phenotype can be caused by the abnormalities in the other genes. Through targeted parallel sequencing, whole-exome sequencing, de novo genomic sequencing, and RNA isoform sequencing, we identified a germline V2097M variation in <jats:italic>CSPG4<\/jats:italic> gene probably increased susceptibility to a NF1-like phenotype family. Besides, a series of in vitro functional studies revealed that this variant promoted cell proliferation by activating the MAPK\/ERK signaling pathway via hindering ectodomain cleavage of CSPG4. Our data demonstrate that a germline variation in the <jats:italic>CSPG4<\/jats:italic> gene might be a high risk to cause NF1-like phenotype. To our knowledge, this is the first report of mutations in the <jats:italic>CSPG4<\/jats:italic> gene in human diseases.<\/jats:p>","DOI":"10.1038\/s41419-021-04056-1","type":"journal-article","created":{"date-parts":[[2021,8,3]],"date-time":"2021-08-03T09:03:43Z","timestamp":1627981423000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Identification of a germline CSPG4 variation in a family with neurofibromatosis type 1-like phenotype"],"prefix":"10.1038","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6995-840X","authenticated-orcid":false,"given":"Zhuanli","family":"Bai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yiping","family":"Qu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Shi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinju","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhen","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meiju","family":"Ji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"Hou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,8,3]]},"reference":[{"key":"4056_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0147-0272(82)80016-0","volume":"7","author":"VM Riccardi","year":"1982","unstructured":"Riccardi VM. 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