Examination of the genetic factors underlying the cognitive variability associated with neurofibromatosis type 1.

Myrthe J OttenhoffAndré B RietmanSabine E MousEllen PlasschaertDaniela GawehnsHilde BremsRianne Oostenbrinknull nullRick van MinkelenMark NellistElizabeth SchorryEric LegiusHenriette A MollYpe Elgersma

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

The variance and heritability of IQ in individuals with NF1 are similar to that of the general population, and hence mostly driven by genetic background differences. The only factor that significantly attenuates IQ in NF1 individuals is the NF1 chromosomal microdeletion genotype. Implications for clinical management are that individuals with intragenic NF1 variants that score <1.5-2 SD below the mean of the NF1 population should be screened for additional causes of cognitive disability.

Keyphrases

signaling pathway
lps induced
pi k akt
nuclear factor
oxidative stress
copy number
inflammatory response
cell proliferation