Table 2 Comparative analysis of the expression levels of NF1 isoforms I and II in peripheral blood leukocytes of NF1 patients and healthy controls stratified for the severity of the phenotype, and for the presence or absence of LD/MR. Mean value ±SE are reported

Total

138

138

Isoform I

0.00066 ± 0.0001

0.0012 ± 0.0007

5.47E-06

Isoform II

0.0024 ± 0.001

0.01 ± 0.004

0.0004

Isoform II + I

0.0029 ± 0.0002

0.019 ± 0.003

0.0004

Isoform II/I

4.39 ± 1.9

4.05 ± 1.3

0.5

Patients with severe phenotype

Patients with mild phenotype

Total

36

36

Isoform I

0.0004 ± 0.0001

0.0008 ± 0.0001

0.002

Isoform II

0.0017 ± 0.0018

0.0025 ± 0.001

0.09

Isoform II + I

0.0017 ± 0.001

0.0029 ± 0.0002

0.6

Isoform II/I

5.93 ± 1.7

3.92 ± 1.8

0.14

Patients with LD/MR

Patients without LD/MR

Total

26

45

Isoform I

0.0004 ± 0.00009

0.0007 ± 0.0002

0.038

Isoform II

0.0015 ± 0.0005

0.0024 ± 0.0008

0.11

Isoform II + I

0.0019 ± 0.0003

0.0029 ± 0.0005

0.09

Isoform II/I

4.92 ± 1.7

4.2 ± 1.8

0.60

Pediatric patients with LD/MR

Pediatric patients without LD/MR

Total

22

31

Isoform I

0.0001 ± 0.00008

0.0007 ± 0.0002

0.02

Isoform II

0.0014 ± 0.0004

0.0026 ± 0.001

0.10

Isoform II + I

0.0015 ± 0.0003

0.0029 ± 0.001

0.06

Isoform II/I

4 ± 1.4

3.72 ± 1.6

0.88