Cafe au lait spots (GALS) are a frequent and one of the early manifest
ations of neurofibromatosis 1 (NF1). However, there are patients with
isolated GALS who do not meet the diagnostic criteria for NFI. There a
re several reports of families in which GALS are inherited as an autos
omal dominant trait, without any other features of NFI. In one reporte
d family with dominantly inherited CALS linkage to the NF1 locus was r
uled out. In order to elucidate the relationship between familial CALS
and NF1 further, we performed a Linkage analysis in a large kindred w
ith 11 subjects with CALS in three generations and established close l
inkage between CALS and five NF1 intragenic polymorphisms. We propose
that in this family the trait of CALS is allelic to NF1, it is fully p
enetrant, and it does not confer a risk of other NF1 symptoms.