Language:

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Genetics in medicine, 2021-08, Vol.23 (8), p.1506-1513 [Peer Reviewed Journal]

2021 The Author(s) ;2021. The Author(s). ;The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Distributed under a Creative Commons Attribution 4.0 International License ;The Author(s) 2021 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-021-01170-5 ;PMID: 34012067

Full text available

Citations Cited by

Actions
1. Add to My Research
2. Remove from My Research
3. E-mail
4. Print
5. Permalink
6. Citation
7. EasyBib
8. EndNote
9. RefWorks
10. Delicious
11. Export RIS
12. Export BibTeX

Title:
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
Author: Legius, Eric ; Messiaen, Ludwine ; Wolkenstein, Pierre ; Pancza, Patrice ; Avery, Robert A. ; Berman, Yemima ; Blakeley, Jaishri ; Babovic-Vuksanovic, Dusica ; Cunha, Karin Soares ; Ferner, Rosalie ; Fisher, Michael J. ; Friedman, Jan M. ; Gutmann, David H. ; Kehrer-Sawatzki, Hildegard ; Korf, Bruce R. ; Mautner, Victor-Felix ; Peltonen, Sirkku ; Rauen, Katherine A. ; Riccardi, Vincent ; Schorry, Elizabeth ; Stemmer-Rachamimov, Anat ; Stevenson, David A. ; Tadini, Gianluca ; Ullrich, Nicole J. ; Viskochil, David ; Wimmer, Katharina ; Yohay, Kaleb ; Gomes, Alicia ; Jordan, Justin T. ; Mautner, Victor ; Merker, Vanessa L. ; Smith, Miriam J. ; Stevenson, David ; Anten, Monique ; Aylsworth, Arthur ; Baralle, Diana ; Barbarot, Sebastien ; Barker, Fred ; Ben-Shachar, Shay ; Bergner, Amanda ; Bessis, Didier ; Blanco, Ignacio ; Cassiman, Catherine ; Ciavarelli, Patricia ; Clementi, Maurizio ; Frébourg, Thierry ; Giovannini, Marco ; Halliday, Dorothy ; Hammond, Chris ; Hanemann, C.O. ; Hanson, Helen ; Heiberg, Arvid ; Joly, Pascal ; Kalamarides, Michel ; Karajannis, Matthias ; Kroshinsky, Daniela ; Larralde, Margarita ; Lázaro, Conxi ; Le, Lu ; Link, Michael ; Listernick, Robert ; MacCollin, Mia ; Mallucci, Conor ; Moertel, Christopher ; Mueller, Amy ; Ngeow, Joanne ; Oostenbrink, Rianne ; Packer, Roger ; Papi, Laura ; Parry, Allyson ; Peltonen, Juha ; Pichard, Dominique ; Poppe, Bruce ; Rezende, Nilton ; Rodrigues, Luiz Oswaldo ; Rosser, Tena ; Ruggieri, Martino ; Serra, Eduard ; Steinke-Lange, Verena ; Stivaros, Stavros Michael ; Taylor, Amy ; Toelen, Jaan ; Tonsgard, James ; Trevisson, Eva ; Upadhyaya, Meena ; Varan, Ali ; Wilson, Meredith ; Wu, Hao ; Zadeh, Gelareh ; Huson, Susan M. ; Evans, D. Gareth ; Plotkin, Scott R.
Subjects: Brain cancer ; Cafe-au-Lait Spots - genetics ; choroidal abnormalities ; Chromosomes ; Consensus ; Delphi method ; Dermatology ; gene ; Genetic disorders ; Genetic Testing ; Genetics ; Genetics & Heredity ; Hospitals ; Human health and pathology ; Humans ; identification ; Life Sciences ; Medical Genetics ; Medicine ; Medicinsk genetik ; mosaicism ; mutation analysis ; Neurofibromatosis 1 - diagnosis ; Neurofibromatosis 1 - genetics ; Neurological disorders ; Ophthalmology ; Patients ; reveals ; sequence variants ; Tumors
Is Part Of: Genetics in medicine, 2021-08, Vol.23 (8), p.1506-1513
Description: 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). 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. 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. 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. [Display omitted]
Publisher: United States: Elsevier Inc
Language: English
Identifier: ISSN: 1098-3600
EISSN: 1530-0366
DOI: 10.1038/s41436-021-01170-5
PMID: 34012067
Source: Hyper Article en Ligne (HAL) (Open Access)
MEDLINE
ProQuest Databases

Back to results list


INSPIRE LIBRARY - TON DUC THANG UNIVERSITY	(84-028) 37 755 057	Feedback
19 Nguyen Huu Tho St. Dist.7, HCM	thuvien@tdtu.edu.vn	Feedback

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Searching Remote Databases, Please Wait