PMC6384234_01
Family pedigree. Proband identified with arrow. Triangle: Molecularly confirmed NF1 mutation; triangle with slash: genetic test for NF1 mutation performed but negative; star: molecularly confirmed SCN5A mutation; star with slash: genetic test for SCN5A mutation performed but negative; y.o.: years old at diagnosis.
fgene-10-00050-g001.jpg
PMC6384234_01_fgene-10-00050-g001.jpg
fig1
Italian/Caucasian descent who presented with a family history characterized by a strong suspicion of NF1 on the maternal side of the family (Figure 1). In particular, his mother is affected by multiple cafe au lait spots, hyperthyroidism, and stomach malignant neoplasia (at 45 years old).
Electrocardiograms and potential duration maps after ajmaline administration and immediately before epicardial catheter ablation. Patients: Proband, IV-9, and III-1.
fgene-10-00050-g002.jpg
PMC6384234_04_fgene-10-00050-g002.jpg
fig2
The potential duration map can be seen in Figure 2.
Identification of the c. 3946C > T (p.Arg1316*) nonsense mutation in the SCN5A gene and the c.7686delG (p.Ile2563fs*7) frameshift mutation in the NF1 gene. (A,B) NGS paired-end reads loaded in the IGV genome browser. The arrow indicates the position of the single nucleotide variation in SCN5A gene (A) and of the deletion in NF1 gene (B) in patients (mut) compared to a wt control sample. SCN5A gene is in the reverse orientation on the chromosome. (C,D) Sanger sequencing electropherograms confirm the presence of the variants in SCN5A (C) and NF1 (D) in patients and their absence in the wt control. In the electropherogram of NF1 gene analysis, reverse strand is reported.
fgene-10-00050-g003.jpg
PMC6384234_01_fgene-10-00050-g003.jpg
fig3
Results revealed a heterozygous frameshift mutation [c.7686delG (p.Ile2563fs*7)] in the NF1 gene (LOVD genomic variant #0000406041, https://databases.lovd.nl/shared/variants/0000406041) of unknown parental origin (Figure 3).
PMC6384234_02
Electrocardiograms and potential duration maps after ajmaline administration and immediately before epicardial catheter ablation. Patients: Proband, IV-9, and III-1.
fgene-10-00050-g002.jpg
PMC6384234_04_fgene-10-00050-g002.jpg
fig2
The potential duration map can be seen in Figure 2.
PMC6384234_03
PMC6384234_04
Electrocardiograms and potential duration maps after ajmaline administration and immediately before epicardial catheter ablation. Patients: Proband, IV-9, and III-1.
fgene-10-00050-g002.jpg
PMC6384234_04_fgene-10-00050-g002.jpg
fig2
The potential duration map can be seen in Figure 2.
PMC6384234_05
Electrocardiograms and potential duration maps after ajmaline administration and immediately before epicardial catheter ablation. Patients IV-1 and IV-2.
fgene-10-00050-g004.jpg
PMC6384234_06_fgene-10-00050-g004.jpg
fig4
The potential duration map can be seen in Figure 4.
PMC6384234_06
Electrocardiograms and potential duration maps after ajmaline administration and immediately before epicardial catheter ablation. Patients IV-1 and IV-2.
fgene-10-00050-g004.jpg
PMC6384234_06_fgene-10-00050-g004.jpg
fig4
The potential duration map can be seen in Figure 4.
PMC6384234_07
PMC6384234_08