FAMILIAL CAFE AU LAIT SPOTS - A VARIANT OF NEUROFIBROMATOSIS TYPE-1

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.