Clinical and molecular characterization of neurofibromatosis in southern Brazil

Clévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, Maievi Fonini, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Objectives: Neurofibromatoses (type 1: NF1; type 2: NF2) are autosomal dominant tumor predisposition syndromes mostly caused by loss-of-function mutations in the tumor suppressor genes NF1 and NF2, respectively. Genotyping is important for correct diagnosis of these diseases. The authors aimed to characterize NF1 and NF2 variants in patients from Southern Brazil. Methods: Ninety-three unrelated probands with NF1 and 7 unrelated probands with NF2 features were recruited from an Oncogenetics center in Southern Brazil. Two next generation sequencing panels were customized to identify point mutations: NF1 (NF1, RNF135, and SUZ12 genes) and NF2 (NF2 and SMARCB1 genes). Large rearrangements were assessed by Multiplex Ligation-dependent Probe Amplification. Results: Sixty-eight heterozygous NF1 variants were identified in 75/93 probands (80%) and 3 heterozygous NF2 variants were identified in 3/7 probands (43%). In NF1, 59 (87%) variants were pathogenic (4 large rearrangements–6%), 6 (9%) were likely pathogenic, 3 (4%) were variants of uncertain significance and 28 (41%) were novel. In NF2, all variants were pathogenic. No novel genotype-phenotype correlations were observed; however, previously described correlations were confirmed in our cohort. Conclusion: The clinical and molecular characterization of neurofibromatoses in different populations is very important to provide further insights into the pathogenesis of these diseases.

Original languageEnglish (US)
Pages (from-to)577-586
Number of pages10
JournalExpert Review of Molecular Diagnostics
Issue number6
StatePublished - Jun 3 2018


  • Genotype-phenotype correlations
  • neurocutaneous syndromes
  • neurofibromatosis type 1
  • neurofibromatosis type 2
  • next-generation sequencing

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Molecular Medicine
  • Molecular Biology
  • Genetics


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