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Table 2 Results of the NF1 analyses in the MNF1 cohort from Centre for Rare Diseases

From: Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

Patient/type Sample Analysis method Result of NF1 analysis
10, Unilateral Blood (B-lymphocytes) MLPA analysis Negative
12, Unilateral Neurofibroma NGS and MLPA Disease-associated variant (c.3721C > T(p.Arg1241))
  Blood –* Negative
14, Unilateral Blood and plexiform neurofibroma NGS and MLPA Negative incl. SPRED negative
15, Bilateral Blood and CAL spot –* Negative
16, Bilateral Blood NGS and MLPA Negative incl. SPRED negative
17, Unilateral Blood and neurofibroma** DNA sequencing (exon 31) Pathogenic variant (c.5814_5815delTT)
  1. MLPA = Multiplex Ligand-dependent Probe Amplification, NGS = Next Generation Sequencing
  2. *Information on the analysis method was not available
  3. **The level of mosaicism was estimated to be higher in DNA from the neurofibroma biopsy than in the DNA from blood, but without information on percentages
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172

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