Neurofibromatosis gene NF1 on human chromosome 17 at q11.2

The localization of the NF1 gene revealed the
gene on a 600 kb NruI restriction fragment. A
CpG island (CpG-1) and two translocation
breakpoints at t(17;22) and t(1;17) served as
important anchor points for gene identification.
The NF1 gene has 79 exons, which span about
335 kb of genomic DNA. Three unrelated genes,
OMGP, EVI2B, and EVI2A, are embedded within
the NF1 gene in intron 35 on the opposite DNA
strand. Mutation analysis of the NF1 gene shows
deletions, insertions, base substitutions, and
splice mutations leading to truncated and presumably
nonfunctional gene products. Currently
mutations are found in about 60–70% of
patients.