Article Figures & Data
Figures
- Figure 1
- Ten pedigree charts of families with NF1. The black symbols represent the affected individuals, and the open symbols represent the unaffected individuals. The circles and squares indicate females and males, respectively. The arrows identify the probands in the families. The second line represents the sequencing chromatograms of the NF1 variants. The upper panel in the chromatogram depicts the reference sequence. The lower panel represents the heterozygous mutated sequence.
- Figure 2
- Sequence alignment of the p.Ser1733 residue (Red letters) of NF1 in different species.
Tables
Pedigree number Family history Patient number Individual Age at diagnosis (year) Age at onset (year) Gender >5 CALMs 1 Yes 1 III:4 20 3 Female Yes 2 No 2 II:2 16 Infancy Female Yes 3 Yes 3 III:2 12 8 Female Yes 4 II:1 42 6 Male Yes 5 III:1 14 6 Male Yes 6 I:1 66 10 Male Yes 4 Yes 7 II:1 56 Infancy Male Yes 8 III:2 28 Infancy Female Yes 5 Yes 9 II:2 55 18 Male Yes 10 III:1 16 10 Male Yes 6 Yes 11 III:1 25 Infancy Female Yes 12 II:4 49 Infancy Male Yes 7 Yes 13 III:1 52 2 Female Yes 14 II:1 76 2 Male Yes 15 II:2 72 2 Female Yes 16 IV:2 30 2 Male Yes 8 Yes 17 I:2 40 Infancy Female Yes 18 II:1 9 Infancy Female Yes 9 Yes 19 II:1 33 16 Male Yes 20 I:1 62 10 Male Yes 10 No 21 II:1 43 Infancy Female Yes CALMs, café-au-lait macules; NA, not available; -, none.
Pedigree number Skinfold freckling Cutaneous Neurofibromas Plexiformneurofibromas Lisch nodules Optic glioma Osseous lesions Other tumors or cardiovascular defects Intellectual disability 1 NA - - - - - - - 2 NA - - - - - - - 3 NA - - - - - Glioma - Yes Yes - - - - - - NA - - - - - - - Yes Yes - - - - - - 4 - Yes - - - - - - - Yes - - - - - - 5 Yes Yes - - - - - - - Yes - - - - - - 6 - Yes - - - - - - Yes Yes - - - - - - 7 - Yes - - - - - - - Yes - - - - - - - Yes - - - - - - - Yes - - - - - - 8 - Yes - - - - - - - Yes - - - - Intracranial aneurysm Cognition impairment 9 - Yes - - - - - - - Yes - - - - - - 10 - Yes - - - - Epilepsy - CALMs, café-au-lait macules; NA, not available; -, none
Family Number Ref seq NM Nucleotide change Amino Acid Change Variant Type SIFT Polyphen2 ACMG 1 NM_000267.3 Exons 1-58 deletion / Deletion D D pathogenic 2 NM_000267.3 c.5401C>T p.Q1801* Nonsense D D Likely pathogenic 3 NM_000267.3 Exon 1 deletion / Deletion D D pathogenic 4 NM_000267.3 c.2991-2A>C / Splicing D D Likely pathogenic 5 NM_000267.3 c.484C>T p.Q162* Nonsense D D pathogenic 6 NM_000267.3 c.5197T>C p.S1733P# Missense T D Uncertain significance 7 NM_000267.3 c.4922G>A p.W1641* Nonsense D D pathogenic 8 NM_000267.3 c.783_797delinsC p.K261Nfs*25# Frameshift D D Likely pathogenic 9 NM_000267.3 Exons 1-58 deletion / Deletion D D pathogenic 10 NM_000267.3 c.1019_1020del p.S340Cfs*25 Frameshift D D pathogenic D (SIFT) possibly damaging; T (SIFT), tolerated; D (Polyphen2), probably damaging; #, novel variants.
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