Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
dc.contributor.author | Legius, E | |
dc.contributor.author | Messiaen, L | |
dc.contributor.author | Wolkenstein, P | |
dc.contributor.author | Pancza, P | |
dc.contributor.author | Avery, RA | |
dc.contributor.author | Berman, Y | |
dc.contributor.author | Blakeley, J | |
dc.contributor.author | Babovic-Vuksanovic, D | |
dc.contributor.author | Cunha, KS | |
dc.contributor.author | Ferner, R | |
dc.contributor.author | Fisher, MJ | |
dc.contributor.author | Friedman, JM | |
dc.contributor.author | Gutmann, DH | |
dc.contributor.author | Kehrer-Sawatzki, H | |
dc.contributor.author | Korf, BR | |
dc.contributor.author | Mautner, V-F | |
dc.contributor.author | Peltonen, S | |
dc.contributor.author | Rauen, KA | |
dc.contributor.author | Riccardi, V | |
dc.contributor.author | Schorry, E | |
dc.contributor.author | Stemmer-Rachamimov, A | |
dc.contributor.author | Stevenson, DA | |
dc.contributor.author | Tadini, G | |
dc.contributor.author | Ullrich, NJ | |
dc.contributor.author | Viskochil, D | |
dc.contributor.author | Wimmer, K | |
dc.contributor.author | Yohay, K | |
dc.contributor.author | Gomes, A | |
dc.contributor.author | Jordan, JT | |
dc.contributor.author | Mautner, V | |
dc.contributor.author | Merker, VL | |
dc.contributor.author | Smith, MJ | |
dc.contributor.author | Stevenson, D | |
dc.contributor.author | Anten, M | |
dc.contributor.author | Aylsworth, A | |
dc.contributor.author | Baralle, D | |
dc.contributor.author | Barbarot, S | |
dc.contributor.author | Barker, F | |
dc.contributor.author | Ben-Shachar, S | |
dc.contributor.author | Bergner, A | |
dc.contributor.author | Bessis, D | |
dc.contributor.author | Blanco, I | |
dc.contributor.author | Cassiman, C | |
dc.contributor.author | Ciavarelli, P | |
dc.contributor.author | Clementi, M | |
dc.contributor.author | Frébourg, T | |
dc.contributor.author | Giovannini, M | |
dc.contributor.author | Halliday, D | |
dc.contributor.author | Hammond, C | |
dc.contributor.author | Hanemann, Clemens Oliver | |
dc.contributor.author | Hanson, H | |
dc.contributor.author | Heiberg, A | |
dc.contributor.author | Joly, P | |
dc.contributor.author | Kalamarides, M | |
dc.contributor.author | Karajannis, M | |
dc.contributor.author | Kroshinsky, D | |
dc.contributor.author | Larralde, M | |
dc.contributor.author | Lázaro, C | |
dc.contributor.author | Le, L | |
dc.contributor.author | Link, M | |
dc.contributor.author | Listernick, R | |
dc.contributor.author | MacCollin, M | |
dc.contributor.author | Mallucci, C | |
dc.contributor.author | Moertel, C | |
dc.contributor.author | Mueller, A | |
dc.contributor.author | Ngeow, J | |
dc.contributor.author | Oostenbrink, R | |
dc.contributor.author | Packer, R | |
dc.contributor.author | Papi, L | |
dc.contributor.author | Parry, A | |
dc.contributor.author | Peltonen, J | |
dc.contributor.author | Pichard, D | |
dc.contributor.author | Poppe, B | |
dc.contributor.author | Rezende, N | |
dc.contributor.author | Rodrigues, LO | |
dc.contributor.author | Rosser, T | |
dc.contributor.author | Ruggieri, M | |
dc.contributor.author | Serra, E | |
dc.contributor.author | Steinke-Lange, V | |
dc.contributor.author | Stivaros, SM | |
dc.contributor.author | Taylor, A | |
dc.contributor.author | Toelen, J | |
dc.contributor.author | Tonsgard, J | |
dc.contributor.author | Trevisson, E | |
dc.contributor.author | Upadhyaya, M | |
dc.contributor.author | Varan, A | |
dc.contributor.author | Wilson, M | |
dc.contributor.author | Wu, H | |
dc.contributor.author | Zadeh, G | |
dc.contributor.author | Huson, SM | |
dc.contributor.author | Evans, DG | |
dc.contributor.author | Plotkin, SR | |
dc.date.accessioned | 2021-10-15T12:48:59Z | |
dc.date.issued | 2021-08 | |
dc.identifier.issn | 1098-3600 | |
dc.identifier.issn | 1530-0366 | |
dc.identifier.uri | http://hdl.handle.net/10026.1/18075 | |
dc.description.abstract |
<jats:title>Abstract</jats:title><jats:sec> <jats:title>Purpose</jats:title> <jats:p>By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS).</jats:p> </jats:sec><jats:sec> <jats:title>Methods</jats:title> <jats:p>We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups.</jats:p> </jats:sec><jats:sec> <jats:title>Results</jats:title> <jats:p>We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended.</jats:p> </jats:sec><jats:sec> <jats:title>Conclusion</jats:title> <jats:p>The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS.</jats:p> </jats:sec> | |
dc.format.extent | 1506-1513 | |
dc.format.medium | Print-Electronic | |
dc.language | en | |
dc.language.iso | en | |
dc.publisher | American College of Medical Genetics and Genomics | |
dc.subject | Cafe-au-Lait Spots | |
dc.subject | Consensus | |
dc.subject | Genetic Testing | |
dc.subject | Humans | |
dc.subject | Neurofibromatosis 1 | |
dc.title | Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation | |
dc.type | journal-article | |
dc.type | Journal Article | |
dc.type | Research Support, Non-U.S. Gov't | |
plymouth.author-url | https://www.ncbi.nlm.nih.gov/pubmed/34012067 | |
plymouth.issue | 8 | |
plymouth.volume | 23 | |
plymouth.publication-status | Published | |
plymouth.journal | Genetics in Medicine | |
dc.identifier.doi | 10.1038/s41436-021-01170-5 | |
plymouth.organisational-group | /Plymouth | |
plymouth.organisational-group | /Plymouth/Faculty of Health | |
plymouth.organisational-group | /Plymouth/Faculty of Health/Peninsula Medical School | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA | |
plymouth.organisational-group | /Plymouth/REF 2021 Researchers by UoA/UoA01 Clinical Medicine | |
plymouth.organisational-group | /Plymouth/Research Groups | |
plymouth.organisational-group | /Plymouth/Research Groups/Institute of Translational and Stratified Medicine (ITSMED) | |
plymouth.organisational-group | /Plymouth/Research Groups/Institute of Translational and Stratified Medicine (ITSMED)/CBR | |
plymouth.organisational-group | /Plymouth/Users by role | |
plymouth.organisational-group | /Plymouth/Users by role/Academics | |
plymouth.organisational-group | /Plymouth/Users by role/Researchers in ResearchFish submission | |
dc.publisher.place | United States | |
dcterms.dateAccepted | 2021-03-26 | |
dc.rights.embargodate | 2021-10-16 | |
dc.identifier.eissn | 1530-0366 | |
dc.rights.embargoperiod | Not known | |
rioxxterms.versionofrecord | 10.1038/s41436-021-01170-5 | |
rioxxterms.licenseref.uri | http://www.rioxx.net/licenses/all-rights-reserved | |
rioxxterms.licenseref.startdate | 2021-08 | |
rioxxterms.type | Journal Article/Review |