Table 5 Correlation between clinical features and number of genes lost (excluding Patient 2 with deletion > 5.5 Mb) and considering genes in NF1 deletion + ‘genes in other non-DGV, non-inherited losses’ + ‘genes in other gains’. Patients with plexiform neurofibromas showed slightly high number of genes loss in NF1 region and other sites (borderline significant association, p-value = 0.0488)

Overall Severity of NF

Mild/moderate

N = 9

34 (25–227)

0.7462

Severe

N = 12

33.5 (26–39)

Plexiform neurofibromas

No

N = 7

33 (26–35)

0.0488

Yes

N = 11

34 (26–227)

Lisch Nodules

No

N = 4

34 (32–36)

0.6936

Yes

N = 9

33 (25–39)

Macrocephaly

No

N = 5

34 (32–39)

0.1332

Yes

N = 9

33 (26–35)

Learning Difficulties

No

N = 2

26 (26–26)

0.0230

Yes

N = 15

34 (32–227)

Scoliosis

No

N = 13

34 (26–37)

0.9202

Yes

N = 5

33 (32–39)

Other Malignancies

No

N = 16

34 (26–227)

0.6664

Yes

N = 4

35 (32–39)