Correlation between large rearrangements and patient phenotypes in NF1 deletion syndrome: an update and review

BMC Medical Genomics

Table 1 Clinical and genetic data for the 22 patients included in the study, compared to the general NF1 population

Feature	Number of patients presenting the phenotype	Frequency in the general NF1 population¹	p-value⁴
Plexiform Neurofibroma	11/19 (58%)	120/648 (18.5%)²	0.00021
Lisch Nodules	10/14 (71%)	729/1237 (58.9%)	0.42
Macrocephaly	10/15 (67%)	239/704 (33.9%)	0.012
Learning Difficulties	16/18 (89%)	190/424 (44.8%)	0.00035
Scoliosis	5/19 (26%)	51/236 (21.6%)³	0.58
Other Malignancies	4/21 (19%)	18/523 (3.4%)	0.0077

¹ Data from Koczkowska et al. [17].
² Major external plexiform neurofibromas in individuals > 8 years old
³ In individuals > 18 years old
⁴ Two-tailed Fisher’s exact test performed with the R stats package in RStudio v4.2.2

ISSN: 1755-8794