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

International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC)

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

Purpose: 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). Methods: 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. Results: 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. Conclusion: 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. [Figure not available: see fulltext.]

Original languageEnglish (US)
JournalGenetics in Medicine
DOIs
StateAccepted/In press - 2021
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)

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