The gene for NF1

The gene for NF1 was localised to chromosome 17 in 1987
and cloned in 1990. The gene contains 59 exons and encodes
of protein called neurofibromin, which appear to be involved
in the control of cell growth and differentiation. Mutation
analysis is not routine because of the large size of the gene and
the difficulty in identifying mutations. Prenatal diagnosis by
linkage analysis is possible in families with two or more affected
individuals. NF1 has a very variable phenotype and prenatal
testing does not predict the likely severity of the condition. Up
to one third of cases arise by a new mutation.