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dc.contributor.authorPerez‐Becerril, Cristina; orcid: 0000-0003-1630-1943
dc.contributor.authorEvans, D. Gareth; orcid: 0000-0002-8482-5784
dc.contributor.authorSmith, Miriam J.; orcid: 0000-0002-3184-0817; email: miriam.smith@manchester.ac.uk
dc.date.accessioned2021-07-29T20:13:36Z
dc.date.available2021-07-29T20:13:36Z
dc.date.issued2021-07-29
dc.date.submitted2021-03-25
dc.identifierhttps://chesterrep.openrepository.com/bitstream/handle/10034/625421/humu.24261.xml?sequence=2
dc.identifierhttps://chesterrep.openrepository.com/bitstream/handle/10034/625421/humu.24261.pdf?sequence=3
dc.identifier.citationHuman Mutation
dc.identifier.urihttp://hdl.handle.net/10034/625421
dc.descriptionFrom Wiley via Jisc Publications Router
dc.descriptionHistory: received 2021-03-25, rev-recd 2021-06-16, accepted 2021-07-13, pub-electronic 2021-07-29
dc.descriptionArticle version: VoR
dc.descriptionPublication status: Published
dc.descriptionFunder: U.S. Army Medical Research Acquisition Activity (USAMRAA), Congresionally Directed Medical Research Program (CDMRP), Neurofibromatosis Research Program (NFRP); Id: http://dx.doi.org/10.13039/100014055; Grant(s): W81XWH1910334
dc.descriptionFunder: Manchester National Institute for Health Research (NIHR) Biomedical Research Centre; Grant(s): IS‐BRC‐1215‐20007
dc.description.abstractAbstract: Neurofibromatosis type 1 (NF1), type 2 (NF2), and schwannomatosis are a group of autosomal dominant disorders that predispose to the development of nerve sheath tumors. Pathogenic variants (PVs) that cause NF1 and NF2 are located in the NF1 and NF2 loci, respectively. To date, most variants associated with schwannomatosis have been identified in the SMARCB1 and LZTR1 genes, and a missense variant in the DGCR8 gene was recently reported to predispose to schwannomas. In spite of the high detection rate for PVs in NF1 and NF2 (over 90% of non‐mosaic germline variants can be identified by routine genetic screening) underlying PVs for a proportion of clinical cases remain undetected. A higher proportion of non‐NF2 schwannomatosis cases have no detected PV, with PVs currently only identified in around 70%–86% of familial cases and 30%–40% of non‐NF2 sporadic schwannomatosis cases. A number of variants of uncertain significance have been observed for each disorder, many of them located in noncoding, regulatory, or intergenic regions. Here we summarize noncoding variants in this group of genes and discuss their established or potential role in the pathogenesis of NF1, NF2, and schwannomatosis.
dc.languageen
dc.rightsLicence for VoR version of this article: http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.sourceissn: 1059-7794
dc.sourceissn: 1098-1004
dc.subjectREVIEW
dc.subjectREVIEWS
dc.subjectintronic
dc.subjectneurofibromatosis
dc.subjectnoncoding
dc.subjectpathogenic variants
dc.subjectregulatory
dc.subjectschwannomatosis
dc.titlePathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes
dc.typearticle
dc.date.updated2021-07-29T20:13:36Z
dc.date.accepted2021-07-13


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