Identification of a Novel NF1 Frameshift Variant in a Chinese Family with Neurofibromatosis Type 1

Figure 2

Sequence chromatograms of the variant. (a) Detection of a candidate variant c.541dupC (NM_001042492.3) in exon 5 of NF1 gene with whole exome sequencing. (b) Validation and cosegregation of NF1 variant in the family with NF1. The frameshift variant c.541dupC (p.(Gln181Profs20)) was found in all three affected patients and was absent in the normal family members by Sanger sequencing. Sequence chromatograms of the proband (III1) and his healthy mother (II3) were shown. The arrow indicated the mutated site.

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